(used for variant description)
(last modified April 1, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_203500.1 in the KEAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering KEAP1 transcript NM_203500.1.
(upstream sequence)
g.5005
ctttc c.-181
. . . . . . g.5065
cgccctctccccgcctccttttcgggcgtcccgaggccgctccccaaccgacaaccaaga c.-121
. . . . . . g.5125
ccccgcaggccacgcagccctggagccgaggccccccgacggcggaggcgcccgcgggtc c.-61
. . | 02 . . . . g.8345
ccctacagccaag | gtccctgagtgccagaggtggtggtgttgcttatcttctggaacccc c.-1
. . . . . . g.8405
ATGCAGCCAGATCCCAGGCCTAGCGGGGCTGGGGCCTGCTGCCGATTCCTGCCCCTGCAG c.60
M Q P D P R P S G A G A C C R F L P L Q p.20
. . . . . . g.8465
TCACAGTGCCCTGAGGGGGCAGGGGACGCGGTGATGTACGCCTCCACTGAGTGCAAGGCG c.120
S Q C P E G A G D A V M Y A S T E C K A p.40
. . . . . . g.8525
GAGGTGACGCCCTCCCAGCATGGCAACCGCACCTTCAGCTACACCCTGGAGGATCATACC c.180
E V T P S Q H G N R T F S Y T L E D H T p.60
. . . . . . g.8585
AAGCAGGCCTTTGGCATCATGAACGAGCTGCGGCTCAGCCAGCAGCTGTGTGACGTCACA c.240
K Q A F G I M N E L R L S Q Q L C D V T p.80
. . . . . . g.8645
CTGCAGGTCAAGTACCAGGATGCACCGGCCGCCCAGTTCATGGCCCACAAGGTGGTGCTG c.300
L Q V K Y Q D A P A A Q F M A H K V V L p.100
. . . . . . g.8705
GCCTCATCCAGCCCTGTCTTCAAGGCCATGTTCACCAACGGGCTGCGGGAGCAGGGCATG c.360
A S S S P V F K A M F T N G L R E Q G M p.120
. . . . . . g.8765
GAGGTGGTGTCCATTGAGGGTATCCACCCCAAGGTCATGGAGCGCCTCATTGAATTCGCC c.420
E V V S I E G I H P K V M E R L I E F A p.140
. . . . . . g.8825
TACACGGCCTCCATCTCCATGGGCGAGAAGTGTGTCCTCCACGTCATGAACGGTGCTGTC c.480
Y T A S I S M G E K C V L H V M N G A V p.160
. . . . . . g.8885
ATGTACCAGATCGACAGCGTTGTCCGTGCCTGCAGTGACTTCCTGGTGCAGCAGCTGGAC c.540
M Y Q I D S V V R A C S D F L V Q Q L D p.180
. . . . . . g.8945
CCCAGCAATGCCATCGGCATCGCCAACTTCGCTGAGCAGATTGGCTGTGTGGAGTTGCAC c.600
P S N A I G I A N F A E Q I G C V E L H p.200
. . . | 03 . . g.16137
CAGCGTGCCCGGGAGTACATCTACATGCATTTTGGGGAG | GTGGCCAAGCAAGAGGAGTTC c.660
Q R A R E Y I Y M H F G E | V A K Q E E F p.220
. . . . . . g.16197
TTCAACCTGTCCCACTGCCAACTGGTGACCCTCATCAGCCGGGACGACCTGAACGTGCGC c.720
F N L S H C Q L V T L I S R D D L N V R p.240
. . . . . . g.16257
TGCGAGTCCGAGGTCTTCCACGCCTGCATCAACTGGGTCAAGTACGACTGCGAACAGCGA c.780
C E S E V F H A C I N W V K Y D C E Q R p.260
. . . . . . g.16317
CGGTTCTACGTCCAGGCGCTGCTGCGGGCCGTGCGCTGCCACTCGTTGACGCCGAACTTC c.840
R F Y V Q A L L R A V R C H S L T P N F p.280
. . . . . . g.16377
CTGCAGATGCAGCTGCAGAAGTGCGAGATCCTGCAGTCCGACTCCCGCTGCAAGGACTAC c.900
L Q M Q L Q K C E I L Q S D S R C K D Y p.300
. . . . . . g.16437
CTGGTCAAGATCTTCGAGGAGCTCACCCTGCACAAGCCCACGCAGGTGATGCCCTGCCGG c.960
L V K I F E E L T L H K P T Q V M P C R p.320
. . . . . . g.16497
GCGCCCAAGGTGGGCCGCCTGATCTACACCGCGGGCGGCTACTTCCGACAGTCGCTCAGC c.1020
A P K V G R L I Y T A G G Y F R Q S L S p.340
. . . . . . g.16557
TACCTGGAGGCTTACAACCCCAGTGACGGCACCTGGCTCCGGTTGGCGGACCTGCAGGTG c.1080
Y L E A Y N P S D G T W L R L A D L Q V p.360
. . . . . . g.16617
CCGCGGAGCGGCCTGGCCGGCTGCGTGGTGGGCGGGCTGTTGTACGCCGTGGGCGGCAGG c.1140
P R S G L A G C V V G G L L Y A V G G R p.380
. . . . . . g.16677
AACAACTCGCCCGACGGCAACACCGACTCCAGCGCCCTGGACTGTTACAACCCCATGACC c.1200
N N S P D G N T D S S A L D C Y N P M T p.400
. . . . . . g.16737
AATCAGTGGTCGCCCTGCGCCCCCATGAGCGTGCCCCGTAACCGCATCGGGGTGGGGGTC c.1260
N Q W S P C A P M S V P R N R I G V G V p.420
. . . . . . g.16797
ATCGATGGCCACATCTATGCCGTCGGCGGCTCCCACGGCTGCATCCACCACAACAGTGTG c.1320
I D G H I Y A V G G S H G C I H H N S V p.440
| 04 . . . . . . g.18580
GAGAG | GTATGAGCCAGAGCGGGATGAGTGGCACTTGGTGGCCCCAATGCTGACACGAAGG c.1380
E R | Y E P E R D E W H L V A P M L T R R p.460
. . . . . . g.18640
ATCGGGGTGGGCGTGGCTGTCCTCAATCGTCTCCTTTATGCCGTGGGGGGCTTTGACGGG c.1440
I G V G V A V L N R L L Y A V G G F D G p.480
. . . . . . g.18700
ACAAACCGCCTTAATTCAGCTGAGTGTTACTACCCAGAGAGGAACGAGTGGCGAATGATC c.1500
T N R L N S A E C Y Y P E R N E W R M I p.500
. . . | 05 . . . g.19039
ACAGCAATGAACACCATCCGAAGCGGGGCAG | GCGTCTGCGTCCTGCACAACTGTATCTAT c.1560
T A M N T I R S G A G | V C V L H N C I Y p.520
. . . . . . g.19099
GCTGCTGGGGGCTATGATGGTCAGGACCAGCTGAACAGCGTGGAGCGCTACGATGTGGAA c.1620
A A G G Y D G Q D Q L N S V E R Y D V E p.540
. . . . . . g.19159
ACAGAGACGTGGACTTTCGTAGCCCCCATGAAGCACCGGCGAAGTGCCCTGGGGATCACT c.1680
T E T W T F V A P M K H R R S A L G I T p.560
. . | 06 . . . g.21592
GTCCACCAGGGGAGAATCTACGTCCTTG | GAGGCTATGATGGTCACACGTTCCTGGACAGT c.1740
V H Q G R I Y V L G | G Y D G H T F L D S p.580
. . . . . . g.21652
GTGGAGTGTTACGACCCAGATACAGACACCTGGAGCGAGGTGACCCGAATGACATCGGGC c.1800
V E C Y D P D T D T W S E V T R M T S G p.600
. . . . . . g.21712
CGGAGTGGGGTGGGCGTGGCTGTCACCATGGAGCCCTGCCGGAAGCAGATTGACCAGCAG c.1860
R S G V G V A V T M E P C R K Q I D Q Q p.620
. g.21727
AACTGTACCTGTTGA c.1875
N C T C X p.624
. . . . . . g.21787
ggcacttttgtttcttgggcaaaaatacagtccaatggggagtatcattgtttttgtaca c.*60
. . . . . . g.21847
aaaaccgggactaaaagaaaagacagcactgcaaataacccatcttccgggaagggaggc c.*120
. . . . . . g.21907
caggatgcctcagtgttaaaatgacatctcaaaagaagtccaaagcgggaatcatgtgcc c.*180
. . . . . . g.21967
cctcagcggagccccgggagtgtccaagacagcctggctgggaaagggggtgtggaaaga c.*240
. . . . . . g.22027
gcaggcttccaggagagaggcccccaaaccctctggccgggtaataggcctgggtcccac c.*300
. . . . . . g.22087
tcacccatgccggcagctgtcaccatgtgatttattcttggatacctgggagggggccaa c.*360
. . . . . . g.22147
tgggggcctcagggggaggccccctctggaaatgtggttcccagggatgggcctgtacat c.*420
. . . . . . g.22207
agaagccaccggatggcacttccccaccggatggacagttattttgttgataagtaaccc c.*480
. . . . . g.22259
tgtaattttccaaggaaaataaagaacagactaactagtgtctttcaccctg c.*532
(downstream sequence)
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