Canonical Allele Identifier: CA2326049505
Gene: JAK3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826745_17826746delinsAT , CM000681.2:g.17826745_17826746delinsAT GRCh38
NC_000019.9:g.17937554_17937555delinsAT , CM000681.1:g.17937554_17937555delinsAT GRCh37
NC_000019.8:g.17798554_17798555delinsAT NCBI36
NG_007273.1:g.26246_26247delinsAT , LRG_77:g.26246_26247delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1929_*1930delinsAT ENSP00000513006.1:n.*1929_*1930delinsAT
ENST00000696967.1:n.2549_2550delinsAT
ENST00000696968.1:n.605_606delinsAT
ENST00000696969.1:n.2329_2330delinsAT
ENST00000458235.7:c.3372_3373delinsAT MANE Select ENSP00000391676.1:p.Ser1124=
ENST00000458235.5:c.3372_3373delinsAT ENSP00000391676.1:p.Ser1124=
ENST00000527031.5:n.2279-1436_2279-1435delinsAT
ENST00000527670.5:c.3372_3373delinsAT ENSP00000432511.1:p.Ser1124=
NM_000215.3:c.3372_3373delinsAT , LRG_77t1:c.3372_3373delinsAT NP_000206.2:p.Ser1124=
XM_005259896.2:c.3501_3502delinsAT XP_005259953.1:p.Ser1167=
XM_006722745.2:c.3372_3373delinsAT XP_006722808.1:p.Ser1124=
XM_005259896.3:c.3501_3502delinsAT XP_005259953.1:p.Ser1167=
NM_000215.4:c.3372_3373delinsAT MANE Select NP_000206.2:p.Ser1124=
Search 100 bp 5'
Search 100 bp 3'