(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015069.3 in the ZNF423 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032972.2, covering ZNF423 transcript NM_015069.3.
(upstream sequence)
. . . . . g.9322
gaaaacttcctggagaaggatggattttaccctgtaaaagaagaaagacatgg c.-1
. | 02 . . . . . g.42505
ATGCATAAGAAGAGGG | TTGAAGAGGGGGAGGCCTCAGACTTCTCGCTGGCCTGGGATTCC c.60
M H K K R V | E E G E A S D F S L A W D S p.20
. | 03 . . . . . g.101080
TCCGTGACAGCAGCAG | GAGGCCTAGAAGGAGAGCCAGAGTGCGATCAGAAAACCAGCCGT c.120
S V T A A G | G L E G E P E C D Q K T S R p.40
. . . . . . g.101140
GCGCTGGAAGACAGGAACAGCGTGACAAGTCAAGAGGAGAGAAATGAGGATGATGAAGAC c.180
A L E D R N S V T S Q E E R N E D D E D p.60
. . . . . . g.101200
ATGGAGGATGAATCAATTTACACCTGCGATCACTGTCAGCAGGACTTCGAGTCTCTGGCA c.240
M E D E S I Y T C D H C Q Q D F E S L A p.80
. . . | 04. . . g.193156
GACCTGACGGACCACCGGGCCCACCGCTGTCCTGGAG | ATGGTGATGACGACCCACAACTC c.300
D L T D H R A H R C P G D | G D D D P Q L p.100
. . . . . . g.193216
TCCTGGGTGGCCTCGTCTCCCTCCAGCAAGGATGTTGCGTCACCCACGCAGATGATCGGA c.360
S W V A S S P S S K D V A S P T Q M I G p.120
. . . . . . g.193276
GATGGTTGTGACCTCGGCCTCGGCGAGGAGGAAGGGGGCACGGGCCTGCCATACCCTTGC c.420
D G C D L G L G E E E G G T G L P Y P C p.140
. . . . . . g.193336
CAGTTCTGCGACAAGTCCTTCATCCGCTTGAGCTACTTGAAGAGGCACGAGCAGATCCAC c.480
Q F C D K S F I R L S Y L K R H E Q I H p.160
. . . . . . g.193396
AGCGACAAGCTGCCGTTCAAGTGCACCTACTGCAGCCGCCTCTTCAAGCACAAGAGGAGC c.540
S D K L P F K C T Y C S R L F K H K R S p.180
. . . . . . g.193456
CGTGACCGGCACATCAAGCTGCATACGGGCGACAAGAAGTATCACTGCCACGAGTGCGAG c.600
R D R H I K L H T G D K K Y H C H E C E p.200
. . . . . . g.193516
GCAGCCTTCTCCCGCAGCGACCACCTCAAGATCCACCTGAAGACCCACAGCTCCAGCAAG c.660
A A F S R S D H L K I H L K T H S S S K p.220
. . . . . . g.193576
CCCTTCAAGTGCACTGTGTGCAAGCGCGGCTTCTCCTCCACCAGCTCGCTGCAGAGCCAC c.720
P F K C T V C K R G F S S T S S L Q S H p.240
. . . . . . g.193636
ATGCAGGCCCACAAAAAGAACAAGGAGCATCTGGCCAAGTCGGAGAAGGAAGCCAAGAAG c.780
M Q A H K K N K E H L A K S E K E A K K p.260
. . . . . . g.193696
GACGACTTCATGTGCGACTACTGCGAGGACACCTTCAGCCAGACGGAGGAGCTGGAGAAG c.840
D D F M C D Y C E D T F S Q T E E L E K p.280
. . . . . . g.193756
CACGTGCTCACCCGCCACCCGCAGCTGTCCGAGAAGGCGGACCTGCAGTGCATTCACTGC c.900
H V L T R H P Q L S E K A D L Q C I H C p.300
. . . . . . g.193816
CCTGAGGTCTTCGTCGACGAGAACACACTGCTCGCCCATATCCACCAAGCCCACGCCAAC c.960
P E V F V D E N T L L A H I H Q A H A N p.320
. . . . . . g.193876
CAGAAACACAAGTGCCCCATGTGCCCTGAGCAGTTCTCCTCAGTGGAAGGTGTCTACTGC c.1020
Q K H K C P M C P E Q F S S V E G V Y C p.340
. . . . . . g.193936
CACCTGGACAGCCACCGGCAGCCCGACTCCAGCAACCACAGTGTCAGTCCCGACCCTGTA c.1080
H L D S H R Q P D S S N H S V S P D P V p.360
. . . . . . g.193996
CTGGGCAGCGTGGCCTCCATGAGCAGCGCCACACCCGACTCCAGCGCCTCTGTGGAGCGT c.1140
L G S V A S M S S A T P D S S A S V E R p.380
. . . . . . g.194056
GGCTCCACCCCGGACTCCACCTTGAAGCCGCTGCGGGGGCAGAAGAAGATGCGGGATGAC c.1200
G S T P D S T L K P L R G Q K K M R D D p.400
. . . . . . g.194116
GGGCAGGGCTGGACCAAGGTGGTCTATAGCTGCCCCTATTGTTCCAAGCGGGACTTTAAC c.1260
G Q G W T K V V Y S C P Y C S K R D F N p.420
. . . . . . g.194176
AGCCTGGCCGTGCTGGAGATCCACCTGAAGACCATCCACGCGGACAAGCCCCAGCAGAGC c.1320
S L A V L E I H L K T I H A D K P Q Q S p.440
. . . . . . g.194236
CACACATGTCAGATCTGCCTGGACTCCATGCCCACCCTCTACAACCTCAACGAGCACGTT c.1380
H T C Q I C L D S M P T L Y N L N E H V p.460
. . . . . . g.194296
CGCAAGCTGCACAAGAACCATGCCTACCCTGTGATGCAGTTTGGCAACATCTCTGCCTTC c.1440
R K L H K N H A Y P V M Q F G N I S A F p.480
. . . . . . g.194356
CACTGCAACTACTGCCCCGAGATGTTCGCCGACATCAATAGCCTGCAGGAGCACATCCGC c.1500
H C N Y C P E M F A D I N S L Q E H I R p.500
. . . . . . g.194416
GTCTCCCACTGCGGCCCCAACGCCAACCCCTCTGACGGTAATAATGCTTTCTTCTGCAAC c.1560
V S H C G P N A N P S D G N N A F F C N p.520
. . . . . . g.194476
CAGTGCTCCATGGGTTTCCTTACTGAGTCCTCCCTCACCGAGCACATCCAGCAGGCCCAC c.1620
Q C S M G F L T E S S L T E H I Q Q A H p.540
. . . . . . g.194536
TGCAGTGTGGGCAGTGCCAAACTAGAGTCTCCGGTGGTGCAGCCCACGCAGTCCTTCATG c.1680
C S V G S A K L E S P V V Q P T Q S F M p.560
. . . . . . g.194596
GAGGTCTATTCCTGCCCCTACTGCACCAACTCCCCCATCTTTGGCTCCATCCTGAAACTC c.1740
E V Y S C P Y C T N S P I F G S I L K L p.580
. . . . . . g.194656
ACCAAGCACATCAAGGAGAACCACAAGAACATTCCACTGGCCCACAGCAAGAAGTCCAAG c.1800
T K H I K E N H K N I P L A H S K K S K p.600
. . . . . . g.194716
GCCGAGCAGAGCCCAGTCTCGTCCGATGTGGAGGTGTCTTCCCCGAAGCGGCAGCGGCTC c.1860
A E Q S P V S S D V E V S S P K R Q R L p.620
. . . . . . g.194776
TCAGCAAGCGCCAACTCCATCTCCAATGGGGAGTATCCTTGCAATCAATGCGACCTCAAG c.1920
S A S A N S I S N G E Y P C N Q C D L K p.640
. . . . . . g.194836
TTCTCCAACTTTGAGAGCTTCCAGACCCACCTGAAGCTGCACCTGGAGCTGCTGCTGCGG c.1980
F S N F E S F Q T H L K L H L E L L L R p.660
. . . . . . g.194896
AAGCAAGCGTGCCCCCAGTGCAAAGAGGACTTTGACTCCCAGGAGTCCCTCCTGCAGCAC c.2040
K Q A C P Q C K E D F D S Q E S L L Q H p.680
. . . . . . g.194956
CTGACAGTGCATTACATGACCACGTCGACCCACTATGTGTGCGAGAGCTGCGACAAGCAA c.2100
L T V H Y M T T S T H Y V C E S C D K Q p.700
. . . . . . g.195016
TTTTCCTCGGTGGATGACCTGCAGAAGCACCTGCTGGACATGCACACCTTTGTGTTGTAC c.2160
F S S V D D L Q K H L L D M H T F V L Y p.720
. . . . . . g.195076
CACTGCACCCTGTGTCAGGAGGTCTTCGACTCCAAGGTGTCCATCCAGGTGCACCTGGCG c.2220
H C T L C Q E V F D S K V S I Q V H L A p.740
. . . . . . g.195136
GTGAAGCACAGCAATGAGAAGAAGATGTACCGCTGCACGGCCTGCAACTGGGACTTCCGC c.2280
V K H S N E K K M Y R C T A C N W D F R p.760
. . . . . . g.195196
AAGGAGGCTGACCTGCAGGTGCACGTCAAACACAGCCACCTGGGCAACCCGGCCAAGGCT c.2340
K E A D L Q V H V K H S H L G N P A K A p.780
. . . . . . g.195256
CACAAGTGCATCTTCTGTGGGGAGACCTTCAGCACCGAGGTGGAGCTGCAGTGCCACATC c.2400
H K C I F C G E T F S T E V E L Q C H I p.800
. . . . . . g.195316
ACCACACACAGCAAGAAGTATAACTGTAAGTTCTGCAGCAAGGCCTTCCACGCCATCATC c.2460
T T H S K K Y N C K F C S K A F H A I I p.820
. . . . . . g.195376
CTGCTGGAGAAGCACCTGCGGGAGAAGCACTGTGTGTTTGATGCTGCGACCGAGAACGGC c.2520
L L E K H L R E K H C V F D A A T E N G p.840
. . . . . . g.195436
ACGGCCAATGGGGTACCCCCAATGGCCACCAAGAAAGCTGAGCCTGCTGACCTGCAGGGC c.2580
T A N G V P P M A T K K A E P A D L Q G p.860
. . . . . . g.195496
ATGCTGCTTAAGAACCCTGAGGCACCTAACAGCCATGAGGCCAGCGAGGATGACGTGGAC c.2640
M L L K N P E A P N S H E A S E D D V D p.880
. . . . . . g.195556
GCGTCGGAGCCCATGTACGGCTGTGACATCTGTGGGGCGGCCTACACCATGGAGGTGCTG c.2700
A S E P M Y G C D I C G A A Y T M E V L p.900
. . . . . . g.195616
CTGCAGAATCACCGGCTGCGGGACCACAATATCCGGCCGGGCGAGGATGATGGCTCACGC c.2760
L Q N H R L R D H N I R P G E D D G S R p.920
. . . . . . g.195676
AAGAAGGCTGAGTTTATCAAGGGCAGTCACAAGTGCAACGTTTGTTCACGGACTTTCTTC c.2820
K K A E F I K G S H K C N V C S R T F F p.940
. . . . . . g.195736
TCGGAGAACGGGCTACGGGAGCACCTGCAGACGCACCGGGGCCCTGCCAAGCACTACATG c.2880
S E N G L R E H L Q T H R G P A K H Y M p.960
. . . . . . g.195796
TGTCCCATCTGTGGTGAGCGCTTCCCTTCGCTGCTGACGCTCACCGAACACAAGGTGACC c.2940
C P I C G E R F P S L L T L T E H K V T p.980
. . . . . . g.195856
CACAGCAAGAGCCTGGACACGGGCACCTGTCGCATCTGCAAGATGCCCCTGCAGAGCGAG c.3000
H S K S L D T G T C R I C K M P L Q S E p.1000
. . . . . . g.195916
GAGGAGTTTATTGAGCACTGCCAGATGCACCCTGACCTGCGCAACTCACTCACGGGCTTC c.3060
E E F I E H C Q M H P D L R N S L T G F p.1020
. . . . . . g.195976
CGCTGTGTGGTCTGCATGCAGACAGTCACTTCCACGCTTGAGCTCAAGATCCATGGCACC c.3120
R C V V C M Q T V T S T L E L K I H G T p.1040
. . . . . . g.196036
TTCCACATGCAGAAGCTGGCGGGCAGCTCAGCGGCGTCCTCCCCCAATGGCCAGGGGCTG c.3180
F H M Q K L A G S S A A S S P N G Q G L p.1060
. . . . . . g.196096
CAGAAGCTCTACAAGTGCGCCCTGTGCCTCAAGGAGTTCCGCAGCAAGCAGGACCTGGTG c.3240
Q K L Y K C A L C L K E F R S K Q D L V p.1080
. . . . . . g.196156
AAGCTTGACGTCAATGGGCTGCCCTACGGCCTCTGCGCCGGCTGCATGGCCCGCAGCGCC c.3300
K L D V N G L P Y G L C A G C M A R S A p.1100
. . . . . . g.196216
AACGGACAGGTGGGTGGCCTGGCCCCGCCCGAGCCCGCCGACCGGCCCTGTGCCGGCCTC c.3360
N G Q V G G L A P P E P A D R P C A G L p.1120
. . . . . . g.196276
CGTTGCCCCGAGTGCAGTGTCAAGTTTGAGAGTGCCGAAGACCTGGAGAGCCACATGCAG c.3420
R C P E C S V K F E S A E D L E S H M Q p.1140
. . . . . . g.196336
GTGGACCACCGTGACCTCACGCCGGAGACCAGTGGGCCCCGGAAAGGCACCCAGACATCG c.3480
V D H R D L T P E T S G P R K G T Q T S p.1160
. | 05 . . . . . g.205801
CCAGTGCCCCGG | AAAAAGACATACCAGTGCATCAAGTGCCAGATGACCTTCGAGAACGAG c.3540
P V P R | K K T Y Q C I K C Q M T F E N E p.1180
. . . | 06. . . g.306536
AGAGAGATCCAAATCCACGTTGCCAACCACATGATTG | AGGAAGGCATCAACCACGAGTGT c.3600
R E I Q I H V A N H M I E | E G I N H E C p.1200
. . . . . . g.306596
AAGCTGTGCAACCAGATGTTCGACTCCCCGGCCAAGCTCCTCTGTCACCTCATTGAGCAC c.3660
K L C N Q M F D S P A K L L C H L I E H p.1220
. . . . | 07 . g.308279
AGCTTCGAGGGCATGGGCGGCACCTTCAAATGCCCCGTGTGTTTCACAG | TCTTCGTCCAG c.3720
S F E G M G G T F K C P V C F T V | F V Q p.1240
. . . . . . g.308339
GCCAACAAGTTGCAGCAGCACATCTTTGCCGTGCACGGGCAGGAGGACAAGATCTACGAC c.3780
A N K L Q Q H I F A V H G Q E D K I Y D p.1260
. . . . | 08 . . g.340718
TGCTCACAGTGCCCTCAGAAGTTCTTCTTCCAGACCGAGCTGCAG | AACCACACGATGAGC c.3840
C S Q C P Q K F F F Q T E L Q | N H T M S p.1280
. g.340733
CAGCACGCACAGTGA c.3855
Q H A Q X p.1284
. . . . . . g.340793
gggatcgctcaacaggacacctctccgcagaaggcttgccggagacgccgtggggagggc c.*60
. . . . . . g.340853
catttgaacattacatccaatcaaagtgtcatttgcaacccagatgtaaaactctaatga c.*120
. . . . . . g.340913
tttggccatgaggcgctgctattataagcagctggaaatgaatattaatggcagagatta c.*180
. . . . . . g.340973
aaagtattccatgctcagtattttttattgtcctgctacagctagtgtgcttttagactt c.*240
. . . . . . g.341033
tccgccgcagactacatttctagagttagagaaacctgctttttaaggctattgtccttt c.*300
. . . . . . g.341093
gttccttcatgtattatattgatagtttttaaaaaagaattagtgtgattttttttcttt c.*360
. . . . . . g.341153
gcttcttttttttctttcttgtttttcttcccccccaccccccacccccttcggttaact c.*420
. . . . . . g.341213
actttttaattgcaattctaggtaattgtgcatcgtgatgtgattgcttggctattgtct c.*480
. . . . . . g.341273
gaatatttccttttaattttttaattaaagactaatgctttgattggatttgccagttca c.*540
. . . . . . g.341333
ccggacagtgattaaaactatgtaatgaatataatcggtttcagtgcaactggatggtct c.*600
. . . . . . g.341393
gcttttaaatgtgacttaatctgactgcagtaactagtacagttcaataaagggaatcca c.*660
. g.341404
tgcgattagca c.*671
(downstream sequence)
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