(used for variant description)
(last modified March 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001083962.1 in the TCF4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011716.2, covering TCF4 transcript NM_001083962.1.
(upstream sequence)
. g.52376
gtgtgtggatgt c.-601
. . . . . . g.52436
gtgagtgagagggaacgagagtaagagaaagaaagaagtgaggggatgtaaactcgaata c.-541
. . . . . . g.52496
aatttcaaagtgcctccgagggatgcaacgggcaaaaactgaactgttcaggcttcagat c.-481
. . . . . . g.52556
tgtaactgacgatctgaggaaaaatgaggtgctcgatgaattttcgtttgtattttttgg c.-421
. . . . . . g.52616
cgaggcgggggaggtgttgagattttttttttttcccctcggggtgggtgcgagggggat c.-361
. . . . . . g.52676
gcatcctagcctgcccgacccggagcaagtcgcgtctccccgccggagcccccccaccca c.-301
. . . . . . g.52736
tttctttgctgaacttgcaattccgtgcgcctcggcgtgtttccccctccccccttccct c.-241
. . . . . . g.52796
ccgtcccctcccctccccggagaagagagttggtgttaagagtcagggatcttggctgtg c.-181
. . . . . . g.52856
tgtctgcggatctgtagtggcggcggcggcggcggcggcggggaggcagcaggcgcggga c.-121
. . . . . . g.52916
gcgggcgcaggagcaggcggcggcggtggcggcggcggttagacatgaacgccgcctcgg c.-61
. . . . | 02 . g.53877
cgccggcggtgcacggagagccccttctcgcgcgcgggcg | gtttgtgtgattttgctaaa c.-1
. . . . . . g.53937
ATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTG c.60
M H H Q Q R M A A L G T D K E L S D L L p.20
. | 03 . . . . . g.55689
GATTTCAGTGCG | ATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTG c.120
D F S A | M F S P P V S S G K N G P T S L p.40
. . | 04 . . . . g.176891
GCAAGTGGACATTTTACTGGCTCAA | ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGG c.180
A S G H F T G S N | V E D R S S S G S W G p.60
. . | 05. . . . g.179911
AATGGAGGACATCCAAGCCCGTCCAGG | AACTATGGAGATGGGACTCCCTATGACCACATG c.240
N G G H P S P S R | N Y G D G T P Y D H M p.80
. . . . . . g.179971
ACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATA c.300
T S R D L G S H D N L S P P F V N S R I p.100
| 06 . . . . . . g.237531
CAAA | GTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGT c.360
Q S | K T E R G S Y S S Y G R E S N L Q G p.120
| 07 . . . . . g.290041
TGCCACCAG | CAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCG c.420
C H Q | Q S L L G G D M D M G N P G T L S p.140
. . . . . . g.290101
CCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCT c.480
P T K P G S Q Y Y Q Y S S N N P R R R P p.160
. | 08 . . . . g.290626
CTTCACAGTAGTGCCATGG | AGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTG c.540
L H S S A M E | V Q T K K V R K V P P G L p.180
| 09 . . . . . g.361388
CCATCTTCA | GTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGC c.600
P S S | V Y A P S A S T A D Y N R D S P G p.200
. . . . . | 10 . g.365246
TATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAG | ATGGC c.660
Y P S S K P A T S T F P S S F F M Q D | G p.220
. . . . . . g.365306
CATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGA c.720
H H S S D P W S S S S G M N Q P G Y A G p.240
. . . . . . g.365366
ATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACAT c.780
M L G N S S H I P Q S S S Y C S L H P H p.260
| 11 . . . . . g.371081
GAACGTTTG | AGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG c.840
E R L | S Y P S H S S A D I N S S L P P M p.280
. . . . . . g.371141
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCC c.900
S T F H R S G T N H Y S T S S C T P P A p.300
. . | 12 . . . . g.379498
AACGGGACAGACAGTATAATGG | CAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACT c.960
N G T D S I M A | N R G S G A A G S S Q T p.320
. . . | 13 . . . g.380996
GGAGATGCTCTGGGGAAAGCACTTGCTTCG | ATCTATTCTCCAGATCACACTAACAACAGC c.1020
G D A L G K A L A S | I Y S P D H T N N S p.340
. . . . | 14 . g.383613
TTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAG | CAGGCACAGCT c.1080
F S S N P S T P V G S P P S L S A | G T A p.360
. . . . . . g.383673
GTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACAC c.1140
V W S R N G G Q A S S S P N Y E G P L H p.380
| 15 . . . . . . g.386347
TCTTTG | CAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC c.1200
S L | Q S R I E D R L E R L D D A I H V L p.400
. . . . . . g.386407
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGA c.1260
R N H A V G P S T A M P G G H G D M H G p.420
. . . . . . g.386467
ATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGC c.1320
I I G P S H N G A M G G L G S G Y G T G p.440
. . . | 16 . . . g.406340
CTTCTTTCAGCCAACAGACATTCACTCATG | GTGGGGACCCATCGTGAAGATGGCGTGGCC c.1380
L L S A N R H S L M | V G T H R E D G V A p.460
. . . . . . g.406400
CTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAG c.1440
L R G S H S L L P N Q V P V P Q L P V Q p.480
. . . . | 17 . . g.408336
TCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAG | GCATGCCACCAGGA c.1500
S A T S P D L N P P Q D P Y R G | M P P G p.500
. . . . . . g.408396
CTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGAT c.1560
L Q G Q S V S S G S S E I K S D D E G D p.520
. . . . . . g.408456
GAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGAT c.1620
E N L Q D T K S S E D K K L D D D K K D p.540
. . | 18 . . . g.411948
ATCAAATCAATTACTAGGTCAAGATCTAG | CAATAATGACGATGAGGACCTGACACCAGAG c.1680
I K S I T R S R S S | N N D D E D L T P E p.560
. . . . . . g.412008
CAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGG c.1740
Q K A E R E K E R R M A N N A R E R L R p.580
. . . . . . g.412068
GTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAG c.1800
V R D I N E A F K E L G R M V Q L H L K p.600
. . . . . . g.412128
AGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGT c.1860
S D K P Q T K L L I L H Q A V A V I L S p.620
. | 19 . . . . g.412673
CTGGAGCAGCAAGTCCGAG | AAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGG c.1920
L E Q Q V R E | R N L N P K A A C L K R R p.640
. . . . . . g.412733
GAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGA c.1980
E E E K V S S E P P P L S L A G P H P G p.660
. . . g.412769
ATGGGAGACGCATCGAATCACATGGGACAGATGTAA | c.2017
M G D A S N H M G Q M X p.671
| 20 . . . . . . g.413019
aagg | gtccaagttgccacattgcttcattaaaacaagagaccacttccttaacagctgta c.*60
. . . . . . g.413079
ttatcttaaacccacataaacacttctccttaacccccatttttgtaatataagacaagt c.*120
. . . . . . g.413139
ctgagtagttatgaatcgcagacgcaagaggtttcagcattcccaattatcaaaaaacag c.*180
. . . . . . g.413199
aaaaacaaaaaaaagaaagaaaaaagtgcaacttgagggacgactttctttaacatatca c.*240
. . . . . . g.413259
ttcagaatgtgcaaagcagtatgtacaggctgagacacagcccagagactgaacggcaat c.*300
. . . . . . g.413319
ctttccacactgtggaacaatgcatttgtgcctaaacttcttttggaaaaaaaaaatata c.*360
. . . . . . g.413379
attaatttgtaagtctgaaaaaaaaatatttaatttaaaaaaaattgtaaacttgcaata c.*420
. . . . . . g.413439
atgaaaaagtgtacttctgaagaaaactacatgaacgtttttgttggtattcaagtcagc c.*480
. . . . . . g.413499
tagtgtttataattactggatattgaattaggggaagctcggctgccctagtaacaaaac c.*540
. . . . . . g.413559
cagcaaacgtcctgatgacaacgaagtgatgacattagccattccttagggtaggaggaa c.*600
. . . . . . g.413619
cagatggatcttatagacctatgacaaatatatatataaatatatatataaatatatatt c.*660
. . . . . . g.413679
aaaaatttagtgactatggtaagcttttgttcatttgtttcagacttttttctcctgtaa c.*720
. . . . . . g.413739
aaaaatagtactgattaacttttttaaaagaaagattttactgtaaatatggattttttt c.*780
. . . . . . g.413799
ttttttggtcttatttctgtccctttccctggtttgttatcgtaacctgtagtgccaact c.*840
. . . . . . g.413859
ctgcttccagaggggtagtgcaggatgaaatgctgaccctgatgttgcttctcattcata c.*900
. . . . . . g.413919
aataagtagaaagttgtttctccagtcttttgggaacacaggacttaaaagtcacatcat c.*960
. . . . . . g.413979
gtgtagatattacaagcagcattaccaagacatggcaaaaagagtttgtctgaattgtaa c.*1020
. . . . . . g.414039
tgttgcgtttgtgaacctattctgggattttcagaggtacaaggttagaatgctacaatg c.*1080
. . . . . . g.414099
ttaccactgtgccttccaatgtttatatcatcggaaacataacataatcaaagtggctgt c.*1140
. . . . . . g.414159
gatttaacaaaatgattaaagtgttacctacctgtgtagccgaagtagtgtgcagtgagg c.*1200
. . . . . . g.414219
cgtttctgaatacatggtcagatttttggaaaaaaacaaaaacaaaaaaaacaagtaaag c.*1260
. . . . . . g.414279
ttcaaaaaccgtcaaatgagaaaattgcaagtagtgtgacagagctgattgattttgttg c.*1320
. . . . . . g.414339
ctttcttgattttttttttcaaaatgggtttactaaaatgtagatgacttaactgcctcc c.*1380
. . . . . . g.414399
tccttcgtctgaaaaatgccaatattcaatcatcatgcagcattataacaagccttataa c.*1440
. . . . . . g.414459
gtcctaaagcattaagttgcacttttttgaggaggggtagtgcagtatttctctggccag c.*1500
. . . . . . g.414519
tatgaatgaagtttatacttaccatatttgatagaaacatagatcaagctatggcacagc c.*1560
. . . . . . g.414579
gactcatcagatagctagctttgacgtctgggcacaattgaaccaacttccatcgtgaat c.*1620
. . . . . . g.414639
ctttataatgattgactttggtgtatagtgcagtaaacaaatagtgctcctagttaagta c.*1680
. . . . . . g.414699
tttgtcagcatccttttgtctctaacttgtttctatttttacagccacacaattcttggc c.*1740
. . . . . . g.414759
atgtattaagaaaaaaaaaaatccctgttcaagtagtttttccacctatcagcactgagt c.*1800
. . . . . . g.414819
aaatgccataaatccattgaaatggtctaaatgttccatctgttctcctgttttgccagt c.*1860
. . . . . . g.414879
tatatagtaatgaaatacatttgtaaattttatgcaacaaatggcaaacgtatcattatt c.*1920
. . . . . . g.414939
ttgaaattgtgtatgtaaaagttatatttttacatgtagactcttgttattatgtgtttt c.*1980
. . . . . . g.414999
aatacattgtatcagtttttgtttttttttaaaaactgtggtttaaaaagaagtctcatt c.*2040
. . . . . . g.415059
taaatgaaatagctacaagaatcagaattttatgttcatttctgaaaatgtaagaacaaa c.*2100
. . . . . . g.415119
taagatagttaccacgtggtcatcttttacaaacccataaacattttgattagctgtgtg c.*2160
. . . . . . g.415179
tgtgttgaaaaactgtaaatatgttcagtagcgataaaactaaaataactttgatttgtt c.*2220
. . . . . . g.415239
gataagttcctaaaatgtggaggtggattaaaaccttaggagaatagcagaaatcaaact c.*2280
. . . . . . g.415299
tcatgaaaagttattttggggctttcctgtgaaatgtatgaacaaagaggctcagagaag c.*2340
. . . . . . g.415359
gacatggaagacaataatgtatactctctcctcctccctgaataatgaaaaccatgtgta c.*2400
. . . . . . g.415419
tttgttccctccgtatgttaaagatttccttttagtggtacattctgcactcattttgta c.*2460
. . . . . . g.415479
tagtctaccaaggcgggtatccctaggaacaatattatataggaagcaggtatactctga c.*2520
. . . . . . g.415539
tcacattcaggataagtgtacagaagaaaatacggtgtttactctttagggaactggaaa c.*2580
. . . . . . g.415599
cactccctgcattgatgtacattttaagaatggcacttttgatacatgttatcataaagg c.*2640
. . . . . . g.415659
tgcttaatagagctgaattaaagtttttcaaatctgtaaacaaagcaaaaaagtaaattg c.*2700
. . . . . . g.415719
tagtcatttgattattttttaaattggtgctttatattttgttctcactcagagtaaaag c.*2760
. . . . . . g.415779
ctgcaatttattgttcaccagctttgatgtattcattactcagtaatgcaatacctctat c.*2820
. . . . . . g.415839
tgttgaattccctttggaaataagtgaaaattctaacggccactgaaagctgctcgctag c.*2880
. . . . . . g.415899
gttttgcttggtggagaaacataatctgcacctatccatattaattgggttgtatcccca c.*2940
. . . . . . g.415959
ttaaaaaagaaaaaaagggaatgtggcctttttagtgtgttttttattgttgttgttttg c.*3000
. . . . . . g.416019
taattatcaaacccaggtaagatattggtatcctgcactggattttcaaatgaagttcag c.*3060
. . . . . . g.416079
cagaagacagttaagattaaagtactatacaaaaatttcaaaagggtccatactacgcta c.*3120
. . . . . . g.416139
tctgtatgacgacacttaggctggggatctctttcagaaactcggactttaaaagcaact c.*3180
. . . . . . g.416199
tggagcagttgatccacctccacattcaagtaatttatgaatatgcagaatagggatctg c.*3240
. . . . . . g.416259
ttcatctagaaatttttaccatttgtcttctgtgtagctgcaaggaacactaatgtttat c.*3300
. . . . . . g.416319
acaactgtcagtccacccagtggtgcaactggttctgattcagtcttccgattccttttt c.*3360
. . . . . . g.416379
atttttcactttttcctatttctgaatttttttttttatttgtgatcttgattttgatga c.*3420
. . . . . . g.416439
ggggttggggagtggggagggagtcgaaccaagacttggagttaagaggattttcatctt c.*3480
. . . . . . g.416499
ttgcatccaacaggcagaatatgatctgtgtccaaaagtgaacttgagtcaggaatgaat c.*3540
. . . . . . g.416559
caatttcagcataaacaagcacaaaaatttagtctgctggctgactggaagcaaaaaagt c.*3600
. . . . . . g.416619
caagatggaatatgatgaattccaacacaatggggcaccaaggcctttaggcctctcttt c.*3660
. . . . . . g.416679
ttattttgctttggttttgtttgtttttctttagagacatgctctttctcatgggacttg c.*3720
. . . . . . g.416739
aagtggactcatctttgtgcagtgctggttttgccatactcatttcaagtattatagaca c.*3780
. . . . . . g.416799
tatgtaatggtgaaaatatatgaactgtggcctttttcattcttgttacttgtgatgcaa c.*3840
. . . . . . g.416859
ttaagtgaagataagaaaaaaaaaaaaaaagcagagatttaccatgtatcagtgcctggc c.*3900
. . . . . . g.416919
tttttgttataaagctttgtttgtctagtgctcttttgctataaaatagactgtagtaca c.*3960
. . . . . . g.416979
ccctagtaggaaaaaaaaaaaactaaatttaaaaataaaaaatatatttggcttattttt c.*4020
. . . . . . g.417039
cgcaggagcaatccttttataccatgaatattacaaaaaaattgtcagattctgaatatt c.*4080
. . . . . . g.417099
tcttctttgtagatttttggaatcattatgagtaaaagtttgttactttattttactatt c.*4140
. . . . . . g.417159
taaaagatgttattttaccatgtgttaccaagatgaaactgtatgggtagcttttttgtt c.*4200
. . . . . . g.417219
tgttttttgttttgtttttgtttttgtttttgtttttagttgtaggtcgcagcggggaaa c.*4260
. . . . . . g.417279
ttttttgcgactgtacacatagctgcagcattaaaaacttaaaaaaattgttaaaaaaaa c.*4320
. . . . . . g.417339
aaaaagggaaaacatttcaaaaaaaaaaaaaaagataaacagttacaccttgttttcaat c.*4380
. . . . . . g.417399
gtgtggctgagtgcctcgattttttcatgtttttggtgtatttctgatttgtagaagtgt c.*4440
. . . . . . g.417459
ccaaacaggttgtgtgctggagttccttcaagacaaaaacaaacccagcttggtcaaggc c.*4500
. . . . . . g.417519
cattacctgtttcccatctgtagttattcgatgaagtcatgtacatgaccgttctgtagc c.*4560
. . . . . . g.417579
aataaatgtgccatttttataaactgtttctgacacttgtttcatttcattttgcattgt c.*4620
. . . . . . g.417639
ccatatagctatgattctcttctgtaagtaaaacgcatctatatttcattttccaagtgt c.*4680
. . . . . . g.417699
tggaggtattgacagcttaacaaacaaaacatacaaaaaaaatcacaaaaacaaattgaa c.*4740
. . . . . . g.417759
aagcaaagcacatgattgatcaaggaagagatgcccttaatgaaaatggaacgggatgca c.*4800
. . . . . . g.417819
tgcaaaacaaaaagaaaactgtctagaggattaactaattgaaggaatataattaatgtg c.*4860
. . . . . . g.417879
tgtgtaacactgaagctatgcatttgaagagctctgaactgcaccagtgttttcggttgt c.*4920
. . . . . . g.417939
gctgcaggttgctaagtcaagtcagccttaaccttttgcaccagttggtcggctgtttgg c.*4980
. . . . . . g.417999
cagaacattctcagatcttttcagtcaaaaatctaagatgatttattttgtatcactttg c.*5040
. . . . . . g.418059
ttaaaagctgaatattgttaactacagttaatattaacactgtatttatactttctcaaa c.*5100
. . . . . . g.418119
ctacatccgccccaccacttctggttgcctctgttgactattaatccagatgtaaacaac c.*5160
. . . . . . g.418179
cagatgtttttttctaacttgtacaaactgacgtgtgtcaactatcatggaaggaaaaaa c.*5220
. . . . . . g.418239
atgtacagattaaaattattcagtgttatgtactgtaagttaatatttttgtagaatgga c.*5280
. . . . . . g.418299
catcaatctactttgcaaaatttggaggctatttcaacattgcactgtagaaatgtaaag c.*5340
. . . . . . g.418359
taatgtatgcaatgtaaaggaaagcccgcggtagctgagcgcttcataacagaatgttct c.*5400
. . . . . . g.418419
aatcaagtacgtggtatttggggatgtctccaatattgctcttgtattctttctaattgg c.*5460
. . . . . . g.418479
gtttagtgactagttgaaggaaaatgttataacgccatttggttcacatgtgaagtgccc c.*5520
. . . . . . g.418539
tccatagccaaatgttgggatttttttttttttcgtttttggttggactgtttgcagata c.*5580
. . . . . . g.418599
tttaaattttatgaaatttccaaagattttggttgataacccccttttaccttctaaatg c.*5640
. . . . . . g.418659
atttgagatgttcttatgttcttactgtgtgttttaaatatatataaaagagccacaagc c.*5700
g.418663
attt c.*5704
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center