(used for variant description)
(last modified December 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002272.3 in the KRT4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007380.1, covering KRT4 transcript NM_002272.3.
(upstream sequence)
. . . . . g.5493
actcaccggcctgggccctgtcacttctctgatagctcccagctcgctctctgcagcc c.-1
. . . . . . g.5553
ATGATTGCCAGACAGCAGTGTGTCCGAGGCGGGCCCCGGGGCTTCAGCTGTGGCTCGGCC c.60
M I A R Q Q C V R G G P R G F S C G S A p.20
. . . . . . g.5613
ATTGTAGGCGGTGGCAAGAGAGGTGCCTTCAGCTCAGTCTCCATGTCTGGAGGTGCTGGC c.120
I V G G G K R G A F S S V S M S G G A G p.40
. . . . . . g.5673
CGATGCTCTTCTGGGGGATTTGGCAGCAGAAGCCTCTACAACCTCAGGGGGAACAAAAGC c.180
R C S S G G F G S R S L Y N L R G N K S p.60
. . . . . . g.5733
ATCTCCATGAGTGTGGCTGGGTCACGACAAGGTGCCTGCTTTGGGGGTGCTGGAGGCTTT c.240
I S M S V A G S R Q G A C F G G A G G F p.80
. . . . . . g.5793
GGCACTGGTGGCTTTGGTGGTGGATTTGGGGGCTCCTTCAGTGGTAAGGGTGGCCCTGGC c.300
G T G G F G G G F G G S F S G K G G P G p.100
. . . . . . g.5853
TTCCCCGTCTGCCCCGCTGGGGGAATTCAGGAGGTCACCATCAACCAGAGCTTGCTCACC c.360
F P V C P A G G I Q E V T I N Q S L L T p.120
. . . . . . g.5913
CCCCTCCACGTGGAGATTGACCCTGAGATCCAGAAAGTCCGGACGGAAGAGCGCGAACAG c.420
P L H V E I D P E I Q K V R T E E R E Q p.140
. . . . | 02 . . g.7592
ATCAAGCTCCTCAACAACAAGTTTGCCTCCTTCATCGACAAG | GTGCAGTTCTTAGAGCAA c.480
I K L L N N K F A S F I D K | V Q F L E Q p.160
. . . . . . g.7652
CAGAATAAGGTCCTGGAGACCAAATGGAACCTGCTCCAGCAGCAGACGACCACCACCTCC c.540
Q N K V L E T K W N L L Q Q Q T T T T S p.180
. . . . . . g.7712
AGCAAAAACCTTGAGCCCCTCTTTGAGACCTACCTCAGTGTCCTGAGGAAGCAGCTAGAT c.600
S K N L E P L F E T Y L S V L R K Q L D p.200
. . . . . . g.7772
ACCTTGGGCAATGACAAAGGGCGCCTGCAGTCTGAGCTGAAGACCATGCAGGACAGCGTG c.660
T L G N D K G R L Q S E L K T M Q D S V p.220
. | 03. . . . . g.8778
GAGGACTTCAAGACTAA | GTATGAAGAGGAGATCAACAAACGCACAGCAGCCGAGAATGAC c.720
E D F K T K | Y E E E I N K R T A A E N D p.240
. | 04 . . . . g.10115
TTTGTGGTCCTAAAGAAG | GACGTGGATGCTGCCTACCTGAACAAGGTGGAGTTGGAGGCC c.780
F V V L K K | D V D A A Y L N K V E L E A p.260
. . . . . | 05 . g.10707
AAGGTGGACAGTCTTAATGACGAGATCAACTTCCTGAAGGTCCTCTATGATGCG | GAGCTG c.840
K V D S L N D E I N F L K V L Y D A | E L p.280
. . . . . . g.10767
TCCCAGATGCAGACCCATGTCAGCGACACGTCCGTGGTCCTTTCCATGGACAACAACCGC c.900
S Q M Q T H V S D T S V V L S M D N N R p.300
. . . . . . g.10827
AACCTGGACCTGGACAGCATTATTGCCGAGGTCCGTGCCCAGTACGAGGAGATTGCCCAG c.960
N L D L D S I I A E V R A Q Y E E I A Q p.320
. . . | 06 . . g.11153
AGGAGCAAGGCTGAGGCTGAAGCCCTGTACCAGACCAAG | GTCCAGCAGCTCCAGATCTCG c.1020
R S K A E A E A L Y Q T K | V Q Q L Q I S p.340
. . . . . . g.11213
GTTGACCAACATGGTGACAACCTGAAGAACACCAAGAGTGAAATTGCAGAGCTCAACAGG c.1080
V D Q H G D N L K N T K S E I A E L N R p.360
. . . . | 07 . . g.11702
ATGATCCAGAGGCTGCGGGCAGAGATCGAGAACATCAAGAAGCAG | TGCCAGACTCTTCAG c.1140
M I Q R L R A E I E N I K K Q | C Q T L Q p.380
. . . . . . g.11762
GTATCCGTGGCTGATGCAGAGCAGCGAGGTGAGAATGCCCTTAAAGATGCCCACAGCAAG c.1200
V S V A D A E Q R G E N A L K D A H S K p.400
. . . . . . g.11822
CGCGTAGAGCTGGAGGCTGCCCTGCAGCAGGCCAAGGAGGAGCTGGCACGAATGCTGCGT c.1260
R V E L E A A L Q Q A K E E L A R M L R p.420
. . . . . . g.11882
GAGTACCAGGAGCTCATGAGTGTGAAGCTGGCCTTGGACATCGAGATCGCCACCTACCGC c.1320
E Y Q E L M S V K L A L D I E I A T Y R p.440
. . | 08 . . . . g.12192
AAACTGCTGGAGGGCGAGGAGTACAG | AATGTCTGGAGAATGCCAGAGTGCCGTGAGCATC c.1380
K L L E G E E Y R | M S G E C Q S A V S I p.460
| 09 . . . . . . g.12360
T | CTGTGGTCAGCGGTAGCACCAGCACTGGAGGCATCAGCGGAGGATTAGGAAGTGGCTCC c.1440
S | V V S G S T S T G G I S G G L G S G S p.480
. . . . . . g.12420
GGGTTTGGCCTGAGTAGTGGCTTTGGCTCCGGCTCTGGAAGTGGCTTTGGGTTTGGTGGC c.1500
G F G L S S G F G S G S G S G F G F G G p.500
. . . . . . g.12480
AGTGTCTCTGGCAGTTCCAGCAGCAAGATCATCTCTACCACCACCCTGAACAAGAGACGA c.1560
S V S G S S S S K I I S T T T L N K R R p.520
g.12483
TAG c.1563
X p.520
. . . . . . g.12543
aggagacgaggtccctgcagctcactgtgtccagctgggcccagcactggtgtctctgtg c.*60
. . . . . . g.12603
cttccttcacttcacctccatcctctgtctctggggctcatcttactagtatcccctcca c.*120
. . . . . . g.12663
ctatcccatgggctctctctgccccaggatgatcttctgtgctgggacagggactctgcc c.*180
. . . . . . g.12723
tcttggagtttggtagctacttcttgatttgggcctggtgacccacctggaatgggaagg c.*240
. . . . . . g.12783
atgtcagctgacctctcacctcccatggacagagaagaaaatgaccaggagtgtcatctc c.*300
. . . . . . g.12843
cagaattattggggtcacatatgtcccttcccagtccaatgccatctcccactagatcct c.*360
. . . . . . g.12903
gtattatccatctacatcagaaccaaactacttctccaacacccggcagcacttggccct c.*420
. . . . . . g.12963
gcaagcttaggatgagaaccacttagtgtcccattctactcctctcattccctcttatcc c.*480
. . . . g.13009
atctgcaggtgaatcttcaataaaatgcttttgtcattcattctga c.*526
(downstream sequence)
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