(used for variant description)
(last modified October 15, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020639.2 in the RIPK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032113.2, covering RIPK4 transcript NM_020639.2.
(upstream sequence)
. . . . g.5048
gcacctgggcacctgggcagccgccgcggcgctggctagacgtgcgcg c.-1
. . . . . . g.5108
ATGGAGGGCGACGGCGGGACCCCATGGGCCCTGGCGCTGCTGCGCACCTTCGACGCGGGC c.60
M E G D G G T P W A L A L L R T F D A G p.20
. . . . . . g.5168
GAGTTCACGGGCTGGGAGAAGGTGGGCTCGGGCGGCTTCGGGCAGGTGTACAAGGTGCGC c.120
E F T G W E K V G S G G F G Q V Y K V R p.40
. . . . . . g.5228
CATGTCCACTGGAAGACCTGGCTGGCCATCAAGTGCTCGCCCAGCCTGCACGTCGACGAC c.180
H V H W K T W L A I K C S P S L H V D D p.60
| 02 . . . . . . g.15331
AG | GGAGCGCATGGAGCTTTTGGAAGAAGCCAAGAAGATGGAGATGGCCAAGTTTCGCTAC c.240
R | E R M E L L E E A K K M E M A K F R Y p.80
. . . . . . g.15391
ATCCTGCCTGTGTATGGCATCTGCCGCGAACCTGTCGGCCTGGTCATGGAGTACATGGAG c.300
I L P V Y G I C R E P V G L V M E Y M E p.100
. . . . . . g.15451
ACGGGCTCCCTGGAAAAGCTGCTGGCTTCGGAGCCATTGCCATGGGATCTCCGGTTCCGA c.360
T G S L E K L L A S E P L P W D L R F R p.120
. . . . . . g.15511
ATCATCCACGAGACGGCGGTGGGCATGAACTTCCTGCACTGCATGGCCCCGCCACTCCTG c.420
I I H E T A V G M N F L H C M A P P L L p.140
. . . . . | 03 . g.20850
CACCTGGACCTCAAGCCCGCGAACATCCTGCTGGATGCCCACTACCACGTCAAG | ATTTCT c.480
H L D L K P A N I L L D A H Y H V K | I S p.160
. . . . . . g.20910
GATTTTGGTCTGGCCAAGTGCAACGGGCTGTCCCACTCGCATGACCTCAGCATGGATGGC c.540
D F G L A K C N G L S H S H D L S M D G p.180
. . . . . . g.20970
CTGTTTGGCACAATCGCCTACCTCCCTCCAGAGCGCATCAGGGAGAAGAGCCGGCTCTTC c.600
L F G T I A Y L P P E R I R E K S R L F p.200
. . | 04 . . . . g.22923
GACACCAAGCACGATGTATACAG | CTTTGCGATCGTCATCTGGGGCGTGCTCACACAGAAG c.660
D T K H D V Y S | F A I V I W G V L T Q K p.220
. | 05 . . . . . g.25365
AAGCCGTTTGCAG | ATGAGAAGAACATCCTGCACATCATGGTGAAGGTGGTGAAGGGCCAC c.720
K P F A D | E K N I L H I M V K V V K G H p.240
. . . . . . g.25425
CGCCCCGAGCTGCCGCCCGTGTGCAGAGCCCGGCCGCGCGCCTGCAGCCACCTGATACGC c.780
R P E L P P V C R A R P R A C S H L I R p.260
. . . . . | 06 . g.26235
CTCATGCAGCGGTGCTGGCAGGGGGATCCGCGAGTTAGGCCCACCTTCCAAG | AAATTACT c.840
L M Q R C W Q G D P R V R P T F Q E | I T p.280
. . . . . . g.26295
TCTGAAACCGAGGACCTGTGTGAAAAGCCTGATGACGAAGTGAAAGAAACTGCTCATGAT c.900
S E T E D L C E K P D D E V K E T A H D p.300
. . . | 07 . . . g.27973
CTGGACGTGAAAAGCCCCCCGGAGCCCAGGAGCGAG | GTGGTGCCTGCGAGGCTCAAGCGG c.960
L D V K S P P E P R S E | V V P A R L K R p.320
. . . . . . g.28033
GCCTCTGCCCCCACCTTCGATAACGACTACAGCCTCTCCGAGCTGCTCTCACAGCTGGAC c.1020
A S A P T F D N D Y S L S E L L S Q L D p.340
. . . . . . g.28093
TCTGGAGTTTCCCAGGCTGTCGAGGGCCCCGAGGAGCTCAGCCGCAGCTCCTCTGAGTCC c.1080
S G V S Q A V E G P E E L S R S S S E S p.360
. . . . . . g.28153
AAGCTGCCATCGTCCGGCAGTGGGAAGAGGCTCTCGGGGGTGTCCTCGGTGGACTCCGCC c.1140
K L P S S G S G K R L S G V S S V D S A p.380
. . . . . | 08 . g.30097
TTCTCTTCCAGAGGATCACTGTCGCTGTCCTTTGAGCGGGAACCTTCAACCAGCG | ATCTG c.1200
F S S R G S L S L S F E R E P S T S D | L p.400
. . . . . . g.30157
GGCACCACAGACGTCCAGAAGAAGAAGCTTGTGGATGCCATCGTGTCCGGGGACACCAGC c.1260
G T T D V Q K K K L V D A I V S G D T S p.420
. . . . . . g.30217
AAACTGATGAAGATCCTGCAGCCGCAGGACGTGGACCTGGCACTGGACAGCGGTGCCAGC c.1320
K L M K I L Q P Q D V D L A L D S G A S p.440
. . . . . . g.30277
CTGCTGCACCTGGCGGTGGAGGCCGGGCAAGAGGAGTGCGCCAAGTGGCTGCTGCTCAAC c.1380
L L H L A V E A G Q E E C A K W L L L N p.460
. . . . . . g.30337
AATGCCAACCCCAACCTGAGCAACCGTAGGGGCTCCACCCCGTTGCACATGGCCGTGGAG c.1440
N A N P N L S N R R G S T P L H M A V E p.480
. . . . . . g.30397
AGGAGGGTGCGGGGTGTCGTGGAGCTCCTGCTGGCGCGGAAGATCAGTGTCAACGCCAAG c.1500
R R V R G V V E L L L A R K I S V N A K p.500
. . . . . . g.30457
GATGAGGACCAGTGGACAGCCCTCCACTTTGCAGCCCAGAACGGGGACGAGTCTAGCACA c.1560
D E D Q W T A L H F A A Q N G D E S S T p.520
. . . . . . g.30517
CGGCTGCTGTTGGAGAAGAACGCCTCGGTCAACGAGGTGGACTTTGAGGGCCGGACGCCC c.1620
R L L L E K N A S V N E V D F E G R T P p.540
. . . . . . g.30577
ATGCACGTGGCCTGCCAGCACGGGCAGGAGAATATCGTGCGCATCCTGCTGCGCCGAGGC c.1680
M H V A C Q H G Q E N I V R I L L R R G p.560
. . . . . . g.30637
GTGGACGTGAGCCTGCAGGGCAAGGATGCCTGGCTGCCACTGCACTACGCTGCCTGGCAG c.1740
V D V S L Q G K D A W L P L H Y A A W Q p.580
. . . . . . g.30697
GGCCACCTGCCCATCGTCAAGCTGCTGGCCAAGCAGCCGGGGGTGAGTGTGAACGCCCAG c.1800
G H L P I V K L L A K Q P G V S V N A Q p.600
. . . . . . g.30757
ACGCTGGATGGGAGGACGCCATTGCACCTGGCCGCACAGCGCGGGCACTACCGCGTGGCC c.1860
T L D G R T P L H L A A Q R G H Y R V A p.620
. . . . . . g.30817
CGCATCCTCATCGACCTGTGCTCCGACGTCAACGTCTGCAGCCTGCTGGCACAGACACCC c.1920
R I L I D L C S D V N V C S L L A Q T P p.640
. . . . . . g.30877
CTGCACGTGGCCGCGGAGACGGGGCACACGAGCACTGCCAGGCTGCTCCTGCATCGGGGC c.1980
L H V A A E T G H T S T A R L L L H R G p.660
. . . . . . g.30937
GCTGGCAAGGAGGCCATGACCTCAGACGGCTACACCGCTCTGCACCTGGCTGCCCGCAAC c.2040
A G K E A M T S D G Y T A L H L A A R N p.680
. . . . . . g.30997
GGACACCTGGCCACTGTCAAGCTGCTTGTCGAGGAGAAGGCCGATGTGCTGGCCCGGGGA c.2100
G H L A T V K L L V E E K A D V L A R G p.700
. . . . . . g.31057
CCCCTGAACCAGACGGCGCTGCACCTGGCTGCCGCCCACGGGCACTCGGAGGTGGTGGAG c.2160
P L N Q T A L H L A A A H G H S E V V E p.720
. . . . . . g.31117
GAGTTGGTCAGCGCCGATGTCATTGACCTGTTCGACGAGCAGGGGCTCAGCGCGCTGCAC c.2220
E L V S A D V I D L F D E Q G L S A L H p.740
. . . . . . g.31177
CTGGCCGCCCAGGGCCGGCACGCACAGACGGTGGAGACTCTGCTCAGGCATGGGGCCCAC c.2280
L A A Q G R H A Q T V E T L L R H G A H p.760
. . . . . . g.31237
ATCAACCTGCAGAGCCTCAAGTTCCAGGGCGGCCATGGCCCCGCCGCCACGCTCCTGCGG c.2340
I N L Q S L K F Q G G H G P A A T L L R p.780
. g.31252
CGAAGCAAGACCTAG c.2355
R S K T X p.784
. . . . . . g.31312
ctggctgcctgcggagaccgggggtccacgtggggctcttgtcctgtcctgtgttcctcg c.*60
. . . . . . g.31372
tggggatggaacgatcctgcgtggggccctgttgtggcttacctaaatgttaaccaagca c.*120
. . . . . . g.31432
gaggtgacatggtgccatcaggaggcggctgctgctgaccggagtgtcccctccaggtga c.*180
. . . . . . g.31492
agctggctcaggtgcacatgcccgctccatcatcgatctaggcacctgctgtctgaaggg c.*240
. . . . . . g.31552
accgtgggtcagaatcatttcgttgtgctcctaatgggtcgctgaggctggtctctcagt c.*300
. . . . . . g.31612
gatgaagccccaggcgtggaagcatccactctctcctgaggcgagccaccttgggttgct c.*360
. . . . . . g.31672
ggagctcaccagtcttgagggaggtgcaggggaaactgtgttttttatcttcatacatga c.*420
. . . . . . g.31732
cggtgggcagagaggcctgtcttaaagtttccatggaattgttttataaaatatcttaag c.*480
. . . . . . g.31792
agatgaataccttatcagctgttgcttgaaacctgttaaaaatgttcataacattggata c.*540
. . . . . . g.31852
gtctagtctctaaatgatgactaagtagtggggttggctttgaaaacaatgttttatgca c.*600
. . . . . . g.31912
acaaggaacgaatggtagcagccagctttgcggggcgtatgtgtggccagctcttaacca c.*660
. . . . . . g.31972
ttccagtctattacttgggtgagtccttgtggacaaccacacacacgtgcccacatggta c.*720
. . . . . . g.32032
ctagctgccgttcgtttctcgttgcctaagatgttttggcaactctagagccacaggcct c.*780
. . . . . . g.32092
aagtcattaaaaaattctccctttgtaacctcagtgctggggactgaggcgagccccctc c.*840
. . . . . . g.32152
aggtcgctggagtgcaccagtcttggggaagaggtgcaggagaagctgtgttttttatct c.*900
. . . . . . g.32212
ccacacgcagtatgaagataaaattacatagtattacctagacatagacagtattaccta c.*960
. . . . . . g.32272
ggtagatgcactgctcacctgcgcccttcccagctctcatttttgttaggtgatttggga c.*1020
. . . . . . g.32332
tagggatagtgttttggggtatggggggagtgtttctgacctgctttgcagacgtgcctc c.*1080
. . . . . . g.32392
cgcacctcagcagtttggggtgtggccccagggcggttcttggatgtaaaagatgtggcc c.*1140
. . . . . . g.32452
atctagcctcgtaacttcactgtcacctgtgtcccatagggtgccttctgaatactgtta c.*1200
. . . . . . g.32512
ttagaataagtttgttgcagaacgtgaccctgcgtgcaaacatgtaccgtggcctggtat c.*1260
. . . . . . g.32572
atgatagagattgatattaatgtaccatgtatgttaatgtgaatctgtgggcaggatact c.*1320
. . . . . . g.32632
tttccatggcaggaaatatccaagctgttgaaactggctatgttttaatatgcctcattg c.*1380
. . . . . . g.32692
tgcctttactgttgtgtggactgcgtgagggacaagaagttccatttgatgtcaataaag c.*1440
. . g.32721
caaagtacttgcctacttttttgaagctg c.*1469
(downstream sequence)
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