Canonical Allele Identifier: CA1172054120
Gene: JAK1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833507_64833522delinsGCTACCTCCAAGCAAA , CM000663.2:g.64833507_64833522delinsGCTACCTCCAAGCAAA GRCh38
NC_000001.10:g.65299190_65299205delinsGCTACCTCCAAGCAAA , CM000663.1:g.65299190_65299205delinsGCTACCTCCAAGCAAA GRCh37
NC_000001.9:g.65071778_65071793delinsGCTACCTCCAAGCAAA NCBI36
NG_023402.1:g.137983_137998delinsTTTGCTTGGAGGTAGC
NG_023402.2:g.239225_239240delinsTTTGCTTGGAGGTAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000465376.7:n.2845_2860delinsTTTGCTTGGAGGTAGC
ENST00000671746.2:c.*4413_*4428delinsTTTGCTTGGAGGTAGC ENSP00000500065.1:n.*4413_*4428delinsTTTGCTTGGAGGTAGC
ENST00000671929.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500485.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000671954.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500841.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672179.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500296.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672247.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000499884.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672434.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000499900.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672574.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500714.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672751.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500745.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000673246.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000499942.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000673314.2:n.5804_5819delinsTTTGCTTGGAGGTAGC
ENST00000673502.2:n.5964_5979delinsTTTGCTTGGAGGTAGC
ENST00000699259.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000514240.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000699260.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000514241.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000699261.1:c.*1879_*1894delinsTTTGCTTGGAGGTAGC ENSP00000514242.1:n.*1879_*1894delinsTTTGCTTGGAGGTAGC
ENST00000699310.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000514289.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000699311.1:c.*3165_*3180delinsTTTGCTTGGAGGTAGC ENSP00000514290.1:n.*3165_*3180delinsTTTGCTTGGAGGTAGC
ENST00000699312.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000514291.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000699313.1:c.*3014_*3029delinsTTTGCTTGGAGGTAGC ENSP00000514292.1:n.*3014_*3029delinsTTTGCTTGGAGGTAGC
ENST00000342505.5:c.*1040_*1055delinsTTTGCTTGGAGGTAGC MANE Select ENSP00000343204.4:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000671746.1:c.*4413_*4428delinsTTTGCTTGGAGGTAGC ENSP00000500065.1:n.*4413_*4428delinsTTTGCTTGGAGGTAGC
ENST00000671929.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500485.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000671954.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500841.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672179.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500296.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672247.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000499884.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672434.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000499900.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000672574.1:c.2446_2461delinsTTTGCTTGGAGGTAGC
ENST00000673046.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500878.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000673220.1:c.*6914_*6929delinsTTTGCTTGGAGGTAGC ENSP00000500422.1:n.*6914_*6929delinsTTTGCTTGGAGGTAGC
ENST00000673246.1:c.4020_4035delinsTTTGCTTGGAGGTAGC
ENST00000673254.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000500476.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
ENST00000673314.1:n.5601_5616delinsTTTGCTTGGAGGTAGC
ENST00000342505.4:c.*1040_*1055delinsTTTGCTTGGAGGTAGC ENSP00000343204.4:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_002227.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_002218.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
XM_005270841.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC XP_005270898.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
XM_006710624.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC XP_006710687.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
XM_011541395.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC XP_011539697.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001320923.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001307852.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321852.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308781.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321853.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308782.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321854.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308783.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321855.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308784.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321856.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308785.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321857.1:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308786.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_002227.3:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_002218.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_002227.4:c.*1040_*1055delinsTTTGCTTGGAGGTAGC MANE Select NP_002218.2:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321852.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308781.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321853.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308782.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321854.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308783.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321855.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308784.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321857.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308786.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001320923.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001307852.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
NM_001321856.2:c.*1040_*1055delinsTTTGCTTGGAGGTAGC NP_001308785.1:n.*1040_*1055delinsTTTGCTTGGAGGTAGC
Search 100 bp 5'
Search 100 bp 3'