(used for variant description)
(last modified January 17, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005219.4 in the DIAPH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011594.1, covering DIAPH1 transcript NM_005219.4.
(upstream sequence)
. . g.5021
attcatgaggcgcgcgcagcc c.-121
. . . . . . g.5081
cggcatgctaatgaggcggggcgcggcggctggctaaagagcgactgggcggcggcgggc c.-61
. . . . . . g.5141
gcggagctgccaggcgggagcggcgtaggcgcggggtcgccggccagcgtgaaccgggac c.-1
. . . . . . g.5201
ATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGGACCCGGGACAAGAAGAAGGGC c.60
M E P P G G S L G P G R G T R D K K K G p.20
. . . . . | 02. g.35808
CGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTT | ACT c.120
R S P D E L P S A G G D G G K S K K F | T p.40
. . | 03 . . . . g.36894
CTGAAGCGGCTCATGGCAGATGAG | CTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAG c.180
L K R L M A D E | L E R F T S M R I K K E p.60
. . . . . . g.36954
AAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACA c.240
K E K P N S A H R N S S A S Y G D D P T p.80
. . . . . . g.37014
GCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTG c.300
A Q S L Q D V S D E Q V L V L F E Q M L p.100
| 04 . . . . . . g.39890
| CTGGATATGAACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATC c.360
| L D M N L N E E K Q Q P L R E K D I I I p.120
. . . . | 05 . . g.40458
AAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCT | GGCATGAGCCAGAAGGAG c.420
K R E M V S Q Y L Y T S K A | G M S Q K E p.140
. . . . . . g.40518
AGCTCTAAGTCTGCCATGATGTATATTCAGGAGTTGAGGTCAGGCTTGCGGGATATGCCT c.480
S S K S A M M Y I Q E L R S G L R D M P p.160
. . . . . | 06 . g.40770
CTGCTCAGCTGCCTGGAGTCCCTTCGTGTGTCTCTCAACAACAACCCTGTCAG | TTGGGTG c.540
L L S C L E S L R V S L N N N P V S | W V p.180
. . . . . . g.40830
CAAACATTTGGTGCTGAAGGCTTGGCCTCCTTATTGGACATTCTTAAACGACTTCATGAT c.600
Q T F G A E G L A S L L D I L K R L H D p.200
. . | 07 . . . . g.41720
GAGAAAGAAGAGACTGCTGG | GAGTTACGATAGCCGGAACAAGCATGAGATCATTCGCTGC c.660
E K E E T A G | S Y D S R N K H E I I R C p.220
. . | 08 . . . . g.43208
TTGAAAGCTTTTATGAACAACAAG | TTTGGAATCAAGACCATGTTGGAGACAGAAGAAGGA c.720
L K A F M N N K | F G I K T M L E T E E G p.240
. . . . . . g.43268
ATCCTACTGCTGGTCAGAGCCATGGATCCTGCTGTTCCCAACATGATGATTGATGCAGCT c.780
I L L L V R A M D P A V P N M M I D A A p.260
. . . . | 09 . . g.44875
AAGCTGCTTTCTGCTCTTTGTATTCTACCGCAGCCAGAGGACAT | GAATGAAAGGGTTTTG c.840
K L L S A L C I L P Q P E D M | N E R V L p.280
. . . . . . g.44935
GAGGCAATGACAGAAAGAGCTGAGATGGATGAAGTGGAACGTTTCCAGCCGCTGCTGGAT c.900
E A M T E R A E M D E V E R F Q P L L D p.300
. . . | 10 . . . g.45457
GGATTAAAAAGTGGAACCACTATTGCACTGAAG | GTTGGATGCCTACAGCTGATCAATGCT c.960
G L K S G T T I A L K | V G C L Q L I N A p.320
. . . . . . g.45517
CTCATCACACCAGCGGAGGAACTTGACTTCCGAGTTCACATCAGAAGTGAACTGATGCGT c.1020
L I T P A E E L D F R V H I R S E L M R p.340
. . | 11 . . . . g.45748
TTGGGGCTACATCAGGTGTTGCAG | GACCTTCGAGAGATTGAAAATGAAGATATGAGAGTG c.1080
L G L H Q V L Q | D L R E I E N E D M R V p.360
. . . . . . g.45808
CAACTAAATGTGTTTGATGAACAAGGGGAAGAGGATTCCTATGACCTGAAGGGACGGCTG c.1140
Q L N V F D E Q G E E D S Y D L K G R L p.380
. . | 12 . . . . g.46501
GATGACATTCGCATGGAGATGGA | TGACTTTAATGAAGTCTTTCAGATTCTCTTAAACACA c.1200
D D I R M E M D | D F N E V F Q I L L N T p.400
. . . . . . g.46561
GTGAAGGATTCAAAGGCAGAGCCACACTTCCTTTCCATCCTGCAGCACTTACTCTTGGTC c.1260
V K D S K A E P H F L S I L Q H L L L V p.420
. . | 13 . . . . g.47224
CGAAATGACTATGAGGCCAG | ACCTCAGTACTATAAGTTGATTGAAGAATGTATTTCCCAG c.1320
R N D Y E A R | P Q Y Y K L I E E C I S Q p.440
. . . . . . g.47284
ATAGTTCTGCACAAGAACGGGGCTGATCCTGACTTCAAGTGCCGGCACCTCCAGATTGAG c.1380
I V L H K N G A D P D F K C R H L Q I E p.460
. | 14 . . . . . g.47805
ATTGAGGGATTAATTG | ATCAAATGATTGATAAGACAAAGGTGGAGAAATCTGAAGCCAAA c.1440
I E G L I D | Q M I D K T K V E K S E A K p.480
. . | 15 . . . . g.48948
GCTGCAGAGCTGGAAAAGAAG | TTGGACTCAGAGTTAACAGCCCGACATGAGCTACAGGTG c.1500
A A E L E K K | L D S E L T A R H E L Q V p.500
. . . . . . g.49008
GAAATGAAAAAGATGGAAAGTGACTTTGAGCAGAAGCTTCAAGATCTTCAGGGAGAAAAA c.1560
E M K K M E S D F E Q K L Q D L Q G E K p.520
. . . . . . g.49068
GATGCACTGCATTCTGAAAAGCAGCAAATTGCCACAGAGAAACAGGACCTGGAAGCAGAG c.1620
D A L H S E K Q Q I A T E K Q D L E A E p.540
. . | 16 . . . . g.49886
GTGTCCCAGCTCACAGGAGAG | GTTGCCAAGCTGACAAAGGAACTGGAAGATGCCAAGAAA c.1680
V S Q L T G E | V A K L T K E L E D A K K p.560
. . . . . . g.49946
GAAATGGCTTCCCTCTCTGCGGCAGCTATTACTGTACCTCCTTCTGTTCCTAGTCGTGCT c.1740
E M A S L S A A A I T V P P S V P S R A p.580
. . . . . . g.50006
CCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGCACTATTATTCCACCACCACCT c.1800
P V P P A P P L P G D S G T I I P P P P p.600
. . . . . . g.50066
GCTCCTGGGGATAGTACCACTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCT c.1860
A P G D S T T P P P P P P P P P P P P P p.620
. . . . . . g.50126
TTGCCTGGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCT c.1920
L P G G V C I S S P P S L P G G T A I S p.640
. . . . . . g.50186
CCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGAGGGT c.1980
P P P P L S G D A T I P P P P P L P E G p.660
. . . . . . g.50246
GTTGGCATCCCTTCACCCTCTTCTTTGCCTGGAGGTACTGCCATCCCCCCACCTCCTCCT c.2040
V G I P S P S S L P G G T A I P P P P P p.680
. . . . . . g.50306
TTGCCTGGGAGTGCTAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTGGAATT c.2100
L P G S A R I P P P P P P L P G S A G I p.700
. . . . . . g.50366
CCCCCCCCACCTCCTCCCTTGCCTGGAGAAGCAGGAATGCCACCTCCTCCTCCCCCTCTT c.2160
P P P P P P L P G E A G M P P P P P P L p.720
. . . . . . g.50426
CCTGGTGGTCCTGGAATCCCTCCACCTCCTCCATTTCCCGGAGGCCCTGGCATTCCTCCA c.2220
P G G P G I P P P P P F P G G P G I P P p.740
. . . . . . g.50486
CCTCCACCCGGAATGGGTATGCCTCCACCTCCCCCATTTGGATTTGGAGTTCCTGCAGCC c.2280
P P P G M G M P P P P P F G F G V P A A p.760
. . . . . . g.50546
CCAGTTCTGCCATTTGGATTAACCCCCAAAAAGCTTTATAAGCCAGAGGTGCAGCTCCGG c.2340
P V L P F G L T P K K L Y K P E V Q L R p.780
. | 17 . . . . g.52057
AGGCCAAACTGGTCCAAG | CTTGTGGCTGAGGACCTCTCCCAGGACTGCTTCTGGACAAAG c.2400
R P N W S K | L V A E D L S Q D C F W T K p.800
. . . . . . g.52117
GTGAAGGAGGACCGCTTTGAGAACAATGAACTTTTCGCCAAACTTACCCTTACCTTCTCT c.2460
V K E D R F E N N E L F A K L T L T F S p.820
. | 18 . | 19 . . . . g.89660
GCCCAGACCAAGA | CTTCCAAAG | CCAAGAAGGATCAAGAAGGTGGAGAAGAAAAGAAATCT c.2520
A Q T K T | S K A | K K D Q E G G E E K K S p.840
. . . . . . g.89720
GTGCAAAAGAAAAAAGTAAAAGAGTTAAAGGTGTTGGATTCAAAGACAGCCCAGAATCTC c.2580
V Q K K K V K E L K V L D S K T A Q N L p.860
| 20 . . . . . . g.94417
T | CAATCTTTTTGGGTTCCTTCCGCATGCCCTATCAAGAGATTAAGAATGTCATCCTGGAG c.2640
S | I F L G S F R M P Y Q E I K N V I L E p.880
. . . | 21 . . . g.94806
GTGAATGAGGCTGTTCTGACTGAGTCTATGATCCAG | AACCTCATTAAGCAAATGCCAGAG c.2700
V N E A V L T E S M I Q | N L I K Q M P E p.900
. . . . . . g.94866
CCAGAGCAGTTAAAAATGCTTTCTGAACTGAAGGATGAATATGATGACCTGGCTGAGTCA c.2760
P E Q L K M L S E L K D E Y D D L A E S p.920
. | 22 . . . . g.95156
GAGCAGTTTGGCGTGGTG | ATGGGCACTGTGCCCCGACTGCGGCCTCGCCTCAATGCCATT c.2820
E Q F G V V | M G T V P R L R P R L N A I p.940
. . . . . . g.95216
CTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATATCAAGCCAGAGATTGTGTCTGTC c.2880
L F K L Q F S E Q V E N I K P E I V S V p.960
. . . . . . g.95276
ACTGCTGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTTTCCAATCTCCTAGAGATTACC c.2940
T A A C E E L R K S E S F S N L L E I T p.980
. . . . . . g.95336
TTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAATGCTGGTGCTTTTGGCTTCAAT c.3000
L L V G N Y M N A G S R N A G A F G F N p.1000
. | 23 . . . . g.95515
ATCAGCTTCCTCTGTAAG | CTTCGAGACACCAAGTCCACAGATCAGAAGATGACGTTGTTA c.3060
I S F L C K | L R D T K S T D Q K M T L L p.1020
. . . . . . g.95575
CACTTCTTGGCTGAGTTGTGTGAGAATGACTATCCCGATGTCCTCAAGTTTCCAGACGAG c.3120
H F L A E L C E N D Y P D V L K F P D E p.1040
. . | 24 . . . g.96390
CTTGCCCATGTGGAGAAAGCCAGCCGAG | TTTCTGCTGAAAACTTGCAAAAGAACCTAGAT c.3180
L A H V E K A S R V | S A E N L Q K N L D p.1060
. . . . . . g.96450
CAGATGAAGAAACAAATTTCTGATGTGGAACGTGATGTTCAGAATTTCCCAGCTGCCACA c.3240
Q M K K Q I S D V E R D V Q N F P A A T p.1080
. . . | 25 . . . g.97621
GATGAAAAAGACAAGTTTGTTGAAAAAATGACC | AGCTTTGTGAAGGATGCACAGGAACAG c.3300
D E K D K F V E K M T | S F V K D A Q E Q p.1100
. . . . . . g.97681
TATAACAAGCTGCGGATGATGCATTCTAACATGGAGACCCTCTATAAGGAGCTGGGCGAG c.3360
Y N K L R M M H S N M E T L Y K E L G E p.1120
. . . . . . g.97741
TACTTCCTCTTTGACCCCAAGAAGTTGTCTGTTGAAGAATTTTTCATGGATCTTCACAAT c.3420
Y F L F D P K K L S V E E F F M D L H N p.1140
. | 26 . . . . g.97924
TTTCGGAATATGTTTTTG | CAAGCAGTCAAGGAGAACCAGAAGCGGCGGGAGACAGAAGAA c.3480
F R N M F L | Q A V K E N Q K R R E T E E p.1160
. . . . . . g.97984
AAGATGAGGCGAGCAAAACTAGCCAAGGAGAAGGCAGAGAAGGAGCGGCTAGAGAAGCAG c.3540
K M R R A K L A K E K A E K E R L E K Q p.1180
. . . | 27 . . . g.99852
CAGAAGAGAGAGCAACTCATAGACATGAATGCAG | AGGGCGATGAGACAGGTGTGATGGAC c.3600
Q K R E Q L I D M N A E | G D E T G V M D p.1200
. . . . . . g.99912
AGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAA c.3660
S L L E A L Q S G A A F R R K R G P R Q p.1220
| 28 . . . . . . g.107106
G | CCAACAGGAAGGCCGGGTGTGCAGTCACATCTCTGCTAGCTTCGGAGCTGACCAAGGAT c.3720
A | N R K A G C A V T S L L A S E L T K D p.1240
. . . . . . g.107166
GATGCCATGGCTGCTGTTCCTGCCAAGGTGTCCAAGAACAGTGAGACATTCCCCACAATC c.3780
D A M A A V P A K V S K N S E T F P T I p.1260
. . . g.107205
CTTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTAA c.3819
L E E A K E L V G R A S X p.1272
. . . . . . g.107265
tgtgggtcctgtgaccgcggcagctcctcagcggagccgcagactgtcctgccctgcagc c.*60
. . . . . . g.107325
atgtgcctaaaggctcaaggggatattcctctggggtggccactcccaccaccctgaccc c.*120
. . . . . . g.107385
tgtctttctctctggcctgctgctctctcaacatcacatacagcttcagctgcctggagg c.*180
. . . . . . g.107445
ccagaaggaaagggcagtgcaggggaggcctgagcccgacttagccagccctggctgttg c.*240
. . . . . . g.107505
tattaccaaagcagggtccatgtttgctgccttaaccctgtctcctctctgttactcaga c.*300
. . . . . . g.107565
gggcctcatctcagacaaggcccagcctgctttttctcagccctgactttctaatgggct c.*360
. . . . . . g.107625
ttcccccctaggtcagtcttgctggatttgtgcttttcttttgtggtttctctggccctg c.*420
. . . . . . g.107685
agaatagcatggggcttgtaaacctttgggctagatccctcctttcattgctgttgtctc c.*480
. . . . . . g.107745
tgctcttccctctcctggctgtggttatttattattagtggtgtggcactgggagctgct c.*540
. . . . . . g.107805
cctaaggaagcagggagcaaatcccacctttaccccaccttcctgggaaaggcctccaaa c.*600
. . . . . . g.107865
gcaaaggatctggaccagtttccctgctgtgctgtggcccaggccagagcctgtgggcag c.*660
. . . . . . g.107925
gcaggcagggcatagcgacagtgtgggacctgcccccagcttctgccacgctttatgccc c.*720
. . . . . . g.107985
ttgcctctctggacgctctgcaccaaccccaggctactgagccaccttccctcctcatgc c.*780
. . . . . . g.108045
cttccctgagctttggtgcatctcatctggactatgggttgtactgtgaccatcccaaca c.*840
. . . . . . g.108105
cctcaccctctgtctacaaggaaatgggaggtggagcctcctggctgagaaattgttttg c.*900
. . . . . . g.108165
caaatggatctatttttgtatgaaaaaaaaaatttttttaaagaaaactgttccttcccc c.*960
. . . . . . g.108225
ctttcccctccataatgtaagaagctttggtggcaggttacagagttctgggatttcttc c.*1020
. . . . . . g.108285
tcacaggcccaatcctgaatgtgcccctggaccttctggacccttgagtccaaggcagat c.*1080
. . . . . . g.108345
cctctctcccagggaatccgacacaggaggaaccccttctctggttgagctgggccaggc c.*1140
. . . . . . g.108405
ctaagagtagcaggaactctaagaccacagagttttttataaatgtataaatgtatcaag c.*1200
. . . . . . g.108465
ccaaatgtgcagatgctaactggacattctggggaactgggcaccaggagtgccttcata c.*1260
. . . . . . g.108525
cactgtaccccagctctcttctaaaagagaagtgggtgggcacactgaactgtttggtgg c.*1320
. . . . . . g.108585
ccccaaccacaggaagctgcaattctctggcttagggtgatacttttgccctccttgtgc c.*1380
. . . . . . g.108645
ccctctcagctttccatccccagctaggaagaaagaatggcactcttgggcttggcccag c.*1440
. . . . . . g.108705
aattagagttattagagcaagagagagcttaggaagcatgagggcaactatagtgaggcc c.*1500
. . . . . . g.108765
ttattgccaggagggagggttttggttgctggcgcttgtgtataaaggggcaagagcagc c.*1560
. . . . . . g.108825
tcctttggactattcctgggaggactctgatgcagggcgtctgttgctcccctgggtcac c.*1620
. . . . . . g.108885
ctcctccctgctcgctgacatctggggctttgaccctttcttttttaatctacttttgct c.*1680
. . . . . . g.108945
aagatgcatttaataaaaaaaaagagagagagagagaggtgtgagggacaaaatgcaaac c.*1740
. . . . . . g.109005
ctatttcccttgcctcataggcttctgggatgtcatcacctccagtttgttggttttgtt c.*1800
. . . g.109035
tccaactgttaataaagcattgaaacagta c.*1830
(downstream sequence)
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