(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_175053.3 in the KRT74 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012321.1, covering KRT74 transcript NM_175053.3.
(upstream sequence)
. . . . g.5048
ccttggagactgcttttctccagctctgtcaactcaacctttcccacc c.-1
. . . . . . g.5108
ATGAGTCGGCAACTGAACATCAAGTCCAGTGGTGACAAGGGCAACTTCAGTGTGCATTCG c.60
M S R Q L N I K S S G D K G N F S V H S p.20
. . . . . . g.5168
GCAGTGGTGCCAAGGAAGGCTGTGGGTAGCCTGGCTTCTTACTGTGCAGCTGGCAGAGGG c.120
A V V P R K A V G S L A S Y C A A G R G p.40
. . . . . . g.5228
GCTGGCGCTGGCTTTGGCAGTCGGAGCCTCTATAGCCTTGGAGGGAATCGGCGTATTTCT c.180
A G A G F G S R S L Y S L G G N R R I S p.60
. . . . . . g.5288
TTCAATGTGGCTGGTGGCGGCGTTCGGGCTGGAGGTTACGGCTTCAGGCCTGGCTCTGGG c.240
F N V A G G G V R A G G Y G F R P G S G p.80
. . . . . . g.5348
TATGGAGGGGGCCGGGCCAGTGGCTTTGCTGGCAGTATGTTTGGCAGTGTGGCCCTGGGG c.300
Y G G G R A S G F A G S M F G S V A L G p.100
. . . . . . g.5408
CCTGCATGTTTGTCTGTGTGCCCACCTGGGGGCATCCACCAGGTCACTGTCAACAAGAGC c.360
P A C L S V C P P G G I H Q V T V N K S p.120
. . . . . . g.5468
CTCTTGGCCCCCCTCAACGTGGAGCTGGACCCTGAGATCCAGAAGGTGCGCGCCCAGGAG c.420
L L A P L N V E L D P E I Q K V R A Q E p.140
. . . . . | 02 . g.6167
CGGGAACAGATCAAGGTGCTGAACGACAAGTTCGCCTCCTTCATTGACAAG | GTACGCTTC c.480
R E Q I K V L N D K F A S F I D K | V R F p.160
. . . . . . g.6227
CTAGAGCAGCAGAACCAGGTTCTAGAAACCAAGTGGGAGCTGCTGCAGCAGCTGGACCTG c.540
L E Q Q N Q V L E T K W E L L Q Q L D L p.180
. . . . . . g.6287
AACAACTGCAAGAAGAACCTGGAGCCCATCCTTGAGGGCTACATCAGCAACCTGCGGAAG c.600
N N C K K N L E P I L E G Y I S N L R K p.200
. . . . . . g.6347
CAGCTGGAGACACTGTCTGGGGACAGGGTGAGGCTGGACTCGGAGCTGAGAAGCATGAGG c.660
Q L E T L S G D R V R L D S E L R S M R p.220
. . | 03 . . . . g.6855
GATCTGGTGGAGGACTATAAGAAGAG | ATATGAAGTGGAGATTAACCGGCGCACGACAGCA c.720
D L V E D Y K K R | Y E V E I N R R T T A p.240
. . | 04. . . . g.7404
GAGAATGAGTTTGTGGTGCTTAAGAAG | GATGCAGATGCAGCCTACGCAGTCAAGGTGGAG c.780
E N E F V V L K K | D A D A A Y A V K V E p.260
. . . . . . g.7464
CTTCAGGCCAAAGTGGACTCACTGGACAAAGAAATCAAGTTCCTCAAGTGTCTGTATGAT c.840
L Q A K V D S L D K E I K F L K C L Y D p.280
| 05 . . . . . . g.8049
GCA | GAGATCGCTCAGATCCAGACTCACGCCAGTGAGACCTCTGTCATCCTGTCCATGGAC c.900
A | E I A Q I Q T H A S E T S V I L S M D p.300
. . . . . . g.8109
AACAACCGGGACCTGGACCTTGACAGCATCATCGCTGAGGTCCGCATGCATTATGAGGAG c.960
N N R D L D L D S I I A E V R M H Y E E p.320
. . . . | 06 . g.8853
ATCGCCCTGAAGAGCAAGGCCGAGGCCGAGGCCCTGTACCAGACCAAG | ATCCAGGAGCTG c.1020
I A L K S K A E A E A L Y Q T K | I Q E L p.340
. . . . . . g.8913
CAGCTGGCAGCCAGTCGGCATGGTGACGACCTGAAACACACCAGGAGCGAGATGGTGGAG c.1080
Q L A A S R H G D D L K H T R S E M V E p.360
. . . . . | 07 . g.10442
CTGAACCGGCTCATCCAGAGGATCCGGTGTGAGATCGGGAATGTGAAGAAGCAG | CGTGCC c.1140
L N R L I Q R I R C E I G N V K K Q | R A p.380
. . . . . . g.10502
AGCCTGGAGACGGCCATCGCTGACGCTGAGCAGCGGGGAGACAATGCCCTGAAGGATGCC c.1200
S L E T A I A D A E Q R G D N A L K D A p.400
. . . . . . g.10562
CAGGCCAAGCTGGATGAGCTGGAGGGCGCCCTGCACCAGGCCAAGGAGGAGCTGGCGCGG c.1260
Q A K L D E L E G A L H Q A K E E L A R p.420
. . . . . . g.10622
ATGCTGCGCGAGTACCAGGAGCTCATGAGCCTGAAACTGGCCCTGGACATGGAGATTGCC c.1320
M L R E Y Q E L M S L K L A L D M E I A p.440
. . . | 08 . . . g.11157
ACCTACCGCAAGCTGCTGGAGGGCGAGGAGTGCAG | GATGTCTGGTGAGAATCCATCCTCT c.1380
T Y R K L L E G E E C R | M S G E N P S S p.460
. | 09 . . . . . g.11707
GTGAGCATCT | CTGTCATCAGCAGTAGCAGCTACAGCTACCACCACCCCAGCTCTGCGGGT c.1440
V S I S | V I S S S S Y S Y H H P S S A G p.480
. . . . . . g.11767
GTTGACCTTGGGGCCAGCGCTGTGGCAGGCAGCTCTGGCAGCACCCAGAGCGGGCAGACC c.1500
V D L G A S A V A G S S G S T Q S G Q T p.500
. . . . . . g.11827
AAGACCACAGAGGCGCGAGGGGGAGACCTCAAGGACACCCAGGGCAAGAGCACCCCAGCC c.1560
K T T E A R G G D L K D T Q G K S T P A p.520
. . . g.11857
AGCATCCCAGCAAGGAAAGCCACCCGCTAG c.1590
S I P A R K A T R X p.529
. . . . . . g.11917
acccatggcctcacccacctcagcacttggaagaagaggtgactttgccacccccaaagg c.*60
. . . . . . g.11977
tgtctgccacacccaagttcccaggccctgagttttaaaactgtctgtagtacactcaac c.*120
. . . . . . g.12037
tgtctgcatcgtggtttagcttttactttcaagctctgattgacacagtcaccttccctg c.*180
. . . . . . g.12097
tttccttaggtcccatgtggactaacgacttctcattttcctcgctgcctttggctggca c.*240
. . . . . . g.12157
ggaggctttggaggcacaagccattataaccttcttggccctaaggaagctgtgatcatc c.*300
. . . . . . g.12217
cctagaaagagggaaggagcaggagacgacaggggaggggctggtttgttctgtgcttag c.*360
. . . . . . g.12277
gccaagttagctactgtctgagaggttttacatcccctgccagcatggtggggtgacacg c.*420
. . . . . . g.12337
agacctgtaagcaggtggtgagaagttagacagcctttacttgctccatcagaaacaact c.*480
. . . . . . g.12397
ttgcaggatgacgccaatatttaggacaccacgtgtacatctgtagaccaccagctgcac c.*540
. . . . . . g.12457
ccatctccacaaagccaagtgaaggtgtattggggattctctgccagcctgtgtcaccca c.*600
. . . . . . g.12517
cccacctccttcattatcagcaatagctaccatcatttgtcaagcacctactagatgcca c.*660
. . . . . . g.12577
gacaccctacacatattgcctcctgttctcatccattcctgcaaagaagatgcaatgagc c.*720
. . . . . . g.12637
atccttggaacagactgggagcctgatcccaagaggctgctgaactggccccagtcaccc c.*780
. . . . . . g.12697
acctatgtgccagagtcaggcctggccgacacaaggatctatgctttttctgtggtgtgt c.*840
. . . . . . g.12757
cactgcctttttaacaaaagggctgtcaaagtcaccattctttttgatgagggcagcgta c.*900
. . . . . . g.12817
attacattgccttttgtcaggactgtgggtatgtgatttgtcttccacagtctctctggg c.*960
. . . . . . g.12877
gctgtgtcctacatagcttctgactctcaatttttggtgccatgagctgagctcagtgag c.*1020
. . . . . . g.12937
tggagctggcttttctgtcgctgagtgctactgcctagtccagatgtcgtggctcagggt c.*1080
. . . . . . g.12997
gtaaatattcctaagaatggcagcatctatttcctcttttgtttgaattaaagactctga c.*1140
. g.13007
atttctgctg c.*1150
(downstream sequence)
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