(used for variant description)
(last modified June 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004360.3 in the CDH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008021.1, covering CDH1 transcript NM_004360.3.
(upstream sequence)
g.5004
agtg c.-121
. . . . . . g.5064
gcgtcggaactgcaaagcacctgtgagcttgcggaagtcagttcagactccagcccgctc c.-61
. . . . . . g.5124
cagcccggcccgacccgaccgcacccggcgcctgccctcgctcggcgtccccggccagcc c.-1
. . . . | 02 . g.6017
ATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAG | GTCTCCTCTTGG c.60
M G P W S R S L S A L L L L L Q | V S S W p.20
. . . . . . g.6077
CTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACG c.120
L C Q E P E P C H P G F D A E S Y T F T p.40
. . . . | 03 . . g.69395
GTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAG | TGAATTTTGAAGATTGC c.180
V P R R H L E R G R V L G R V | N F E D C p.60
. . . . . . g.69455
ACCGGTCGACAAAGGACAGCCTATTTTTCCCTCGACACCCGATTCAAAGTGGGCACAGAT c.240
T G R Q R T A Y F S L D T R F K V G T D p.80
. . . . . . g.69515
GGTGTGATTACAGTCAAAAGGCCTCTACGGTTTCATAACCCACAGATCCATTTCTTGGTC c.300
G V I T V K R P L R F H N P Q I H F L V p.100
. . . . . . g.69575
TACGCCTGGGACTCCACCTACAGAAAGTTTTCCACCAAAGTCACGCTGAATACAGTGGGG c.360
Y A W D S T Y R K F S T K V T L N T V G p.120
. . | 04. . . . g.76165
CACCACCACCGCCCCCCGCCCCATCAG | GCCTCCGTTTCTGGAATCCAAGCAGAATTGCTC c.420
H H H R P P P H Q | A S V S G I Q A E L L p.140
. . . . . . g.76225
ACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCC c.480
T F P N S S P G L R R Q K R D W V I P P p.160
. . . . . | 05 . g.76410
ATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAG | ATCAAATCC c.540
I S C P E N E K G P F P K N L V Q | I K S p.180
. . . . . . g.76470
AACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCC c.600
N K D K E G K V F Y S I T G Q G A D T P p.200
. . . . . . g.76530
CCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTG c.660
P V G V F I I E R E T G W L K V T E P L p.220
. . | 06. . . . g.77938
GATAGAGAACGCATTGCCACATACACT | CTCTTCTCTCACGCTGTGTCATCCAACGGGAAT c.720
D R E R I A T Y T | L F S H A V S S N G N p.240
. . . . . . g.77998
GCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCC c.780
A V E D P M E I L I T V T D Q N D N K P p.260
. . . . . | 07 . g.79400
GAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAG | GAACCTCT c.840
E F T Q E V F K G S V M E G A L P G | T S p.280
. . . . . . g.79460
GTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATC c.900
V M E V T A T D A D D D V N T Y N A A I p.300
. . . . . . g.79520
GCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAAC c.960
A Y T I L S Q D P E L P D K N M F T I N p.320
. . . . | 08 . g.79855
AGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAG | AGTTTCCCTACG c.1020
R N T G V I S V V T T G L D R E | S F P T p.340
. . . . . . g.79915
TATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACA c.1080
Y T L V V Q A A D L Q G E G L S T T A T p.360
. . . . . | 09. g.81024
GCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACG | TAC c.1140
A V I T V T D T N D N P P I F N P T T | Y p.380
. . . . . . g.81084
AAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGAT c.1200
K G Q V P E N E A N V V I T T L K V T D p.400
. . . . . . g.81144
GCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGT c.1260
A D A P N T P A W E A V Y T I L N D D G p.420
. . . . . . g.81204
GGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAG c.1320
G Q F V V T T N P V N N D G I L K T A K p.440
| 10 . . . . . . g.83283
| GGCTTGGATTTTGAGGCCAAGCAGCAGTACATTCTACACGTAGCAGTGACGAATGTGGTA c.1380
| G L D F E A K Q Q Y I L H V A V T N V V p.460
. . . . . . g.83343
CCTTTTGAGGTCTCTCTCACCACCTCCACAGCCACCGTCACCGTGGATGTGCTGGATGTG c.1440
P F E V S L T T S T A T V T V D V L D V p.480
. . . . . . g.83403
AATGAAGCCCCCATCTTTGTGCCTCCTGAAAAGAGAGTGGAAGTGTCCGAGGACTTTGGC c.1500
N E A P I F V P P E K R V E V S E D F G p.500
. . . . . . g.83463
GTGGGCCAGGAAATCACATCCTACACTGCCCAGGAGCCAGACACATTTATGGAACAGAAA c.1560
V G Q E I T S Y T A Q E P D T F M E Q K p.520
| 11 . . . . . . g.87043
ATAAC | ATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGT c.1620
I T | Y R I W R D T A N W L E I N P D T G p.540
. . . . . . g.87103
GCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCACG c.1680
A I S T R A E L D R E D F E H V K N S T p.560
. . . | 12 . . . g.89738
TACACAGCCCTAATCATAGCTACAGACAATG | GTTCTCCAGTTGCTACTGGAACAGGGACA c.1740
Y T A L I I A T D N G | S P V A T G T G T p.580
. . . . . . g.89798
CTTCTGCTGATCCTGTCTGATGTGAATGACAACGCCCCCATACCAGAACCTCGAACTATA c.1800
L L L I L S D V N D N A P I P E P R T I p.600
. . . . . . g.89858
TTCTTCTGTGAGAGGAATCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTCCT c.1860
F F C E R N P K P Q V I N I I D A D L P p.620
. . . . . . g.89918
CCCAATACATCTCCCTTCACAGCAGAACTAACACACGGGGCGAGTGCCAACTGGACCATT c.1920
P N T S P F T A E L T H G A S A N W T I p.640
. | 13 . . . . . g.91151
CAGTACAACGACCCAA | CCCAAGAATCTATCATTTTGAAGCCAAAGATGGCCTTAGAGGTG c.1980
Q Y N D P T | Q E S I I L K P K M A L E V p.660
. . . . . . g.91211
GGTGACTACAAAATCAATCTCAAGCTCATGGATAACCAGAATAAAGACCAAGTGACCACC c.2040
G D Y K I N L K L M D N Q N K D Q V T T p.680
. . . . . . g.91271
TTAGAGGTCAGCGTGTGTGACTGTGAAGGGGCCGCTGGCGTCTGTAGGAAGGCACAGCCT c.2100
L E V S V C D C E G A A G V C R K A Q P p.700
. . . . . . g.91331
GTCGAAGCAGGATTGCAAATTCCTGCCATTCTGGGGATTCTTGGAGGAATTCTTGCTTTG c.2160
V E A G L Q I P A I L G I L G G I L A L p.720
| 14 . . . . . . g.95938
CTAA | TTCTGATTCTGCTGCTCTTGCTGTTTCTTCGGAGGAGAGCGGTGGTCAAAGAGCCC c.2220
L I | L I L L L L L F L R R R A V V K E P p.740
. . . . . . g.95998
TTACTGCCCCCAGAGGATGACACCCGGGACAACGTTTATTACTATGATGAAGAAGGAGGC c.2280
L L P P E D D T R D N V Y Y Y D E E G G p.760
. | 15 . . . . . g.97407
GGAGAAGAGGACCAG | GACTTTGACTTGAGCCAGCTGCACAGGGGCCTGGACGCTCGGCCT c.2340
G E E D Q | D F D L S Q L H R G L D A R P p.780
. . . . . . g.97467
GAAGTGACTCGTAACGACGTTGCACCAACCCTCATGAGTGTCCCCCGGTATCTTCCCCGC c.2400
E V T R N D V A P T L M S V P R Y L P R p.800
. . . | 16 . . g.101019
CCTGCCAATCCCGATGAAATTGGAAATTTTATTGATGAA | AATCTGAAAGCGGCTGATACT c.2460
P A N P D E I G N F I D E | N L K A A D T p.820
. . . . . . g.101079
GACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCC c.2520
D P T A P P Y D S L L V F D Y E G S G S p.840
. . . . . . g.101139
GAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGAC c.2580
E A A S L S S L N S S E S D K D Q D Y D p.860
. . . . . . g.101199
TACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAG c.2640
Y L N E W G N R F K K L A D M Y G G G E p.880
g.101208
GACGACTAG c.2649
D D X p.882
. . . . . . g.101268
gggactcgagagaggcgggccccagacccatgtgctgggaaatgcagaaatcacgttgct c.*60
. . . . . . g.101328
ggtggtttttcagctcccttcccttgagatgagtttctggggaaaaaaaagagactggtt c.*120
. . . . . . g.101388
agtgatgcagttagtatagctttatactctctccactttatagctctaataagtttgtgt c.*180
. . . . . . g.101448
tagaaaagtttcgacttatttcttaaagcttttttttttttcccatcactctttacatgg c.*240
. . . . . . g.101508
tggtgatgtccaaaagatacccaaattttaatattccagaagaacaactttagcatcaga c.*300
. . . . . . g.101568
aggttcacccagcaccttgcagattttcttaaggaattttgtctcacttttaaaaagaag c.*360
. . . . . . g.101628
gggagaagtcagctactctagttctgttgttttgtgtatataattttttaaaaaaaattt c.*420
. . . . . . g.101688
gtgtgcttctgctcattactacactggtgtgtccctctgccttttttttttttttaagac c.*480
. . . . . . g.101748
agggtctcattctatcggccaggctggagtgcagtggtgcaatcacagctcactgcagcc c.*540
. . . . . . g.101808
ttgtcctcccaggctcaagctatccttgcacctcagcctcccaagtagctgggaccacag c.*600
. . . . . . g.101868
gcatgcaccactacgcatgactaattttttaaatatttgagacggggtctccctgtgtta c.*660
. . . . . . g.101928
cccaggctggtctcaaactcctgggctcaagtgatcctcccatcttggcctcccagagta c.*720
. . . . . . g.101988
ttgggattacagacatgagccactgcacctgcccagctccccaactccctgccatttttt c.*780
. . . . . . g.102048
aagagacagtttcgctccatcgcccaggcctgggatgcagtgatgtgatcatagctcact c.*840
. . . . . . g.102108
gtaacctcaaactctggggctcaagcagttctcccaccagcctcctttttatttttttgt c.*900
. . . . . . g.102168
acagatggggtcttgctatgttgcccaagctggtcttaaactcctggcctcaagcaatcc c.*960
. . . . . . g.102228
ttctgccttggccccccaaagtgctgggattgtgggcatgagctgctgtgcccagcctcc c.*1020
. . . . . . g.102288
atgttttaatatcaactctcactcctgaattcagttgctttgcccaagataggagttctc c.*1080
. . . . . . g.102348
tgatgcagaaattattgggctcttttagggtaagaagtttgtgtctttgtctggccacat c.*1140
. . . . . . g.102408
cttgactaggtattgtctactctgaagacctttaatggcttccctctttcatctcctgag c.*1200
. . . . . . g.102468
tatgtaacttgcaatgggcagctatccagtgacttgttctgagtaagtgtgttcattaat c.*1260
. . . . . . g.102528
gtttatttagctctgaagcaagagtgatatactccaggacttagaatagtgcctaaagtg c.*1320
. . . . . . g.102588
ctgcagccaaagacagagcggaactatgaaaagtgggcttggagatggcaggagagcttg c.*1380
. . . . . . g.102648
tcattgagcctggcaatttagcaaactgatgctgaggatgattgaggtgggtctacctca c.*1440
. . . . . . g.102708
tctctgaaaattctggaaggaatggaggagtctcaacatgtgtttctgacacaagatccg c.*1500
. . . . . . g.102768
tggtttgtactcaaagcccagaatccccaagtgcctgcttttgatgatgtctacagaaaa c.*1560
. . . . . . g.102828
tgctggctgagctgaacacatttgcccaattccaggtgtgcacagaaaaccgagaatatt c.*1620
. . . . . . g.102888
caaaattccaaatttttttcttaggagcaagaagaaaatgtggccctaaagggggttagt c.*1680
. . . . . . g.102948
tgaggggtagggggtagtgaggatcttgatttggatctctttttatttaaatgtgaattt c.*1740
. . . . . . g.103008
caacttttgacaatcaaagaaaagacttttgttgaaatagctttactgtttctcaagtgt c.*1800
. . . . . . g.103068
tttggagaaaaaaatcaaccctgcaatcactttttggaattgtcttgatttttcggcagt c.*1860
. . . . . . g.103128
tcaagctatatcgaatatagttctgtgtagagaatgtcactgtagttttgagtgtataca c.*1920
. . . . . . g.103188
tgtgtgggtgctgataattgtgtattttctttgggggtggaaaaggaaaacaattcaagc c.*1980
. . . . . . g.103248
tgagaaaagtattctcaaagatgcatttttataaattttattaaacaattttgttaaacc c.*2040
g.103250
at c.*2042
(downstream sequence)
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