Canonical Allele Identifier: CA2583421981

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830144-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830144_17830145insA , CM000681.2:g.17830144_17830145insA	GRCh38
NC_000019.9:g.17940953_17940954insA , CM000681.1:g.17940953_17940954insA	GRCh37
NC_000019.8:g.17801953_17801954insA	NCBI36
NG_007273.1:g.22847_22848insT , LRG_77:g.22847_22848insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1727_*1728insT	ENSP00000513006.1:n.*1727_*1728insT
ENST00000696967.1:n.2347_2348insT
ENST00000696968.1:n.403_404insT
ENST00000696969.1:n.2127_2128insT
ENST00000458235.7:c.3170_3171insT MANE Select	ENSP00000391676.1:p.Gln1058ProfsTer12
ENST00000458235.5:c.3170_3171insT	ENSP00000391676.1:p.Gln1058ProfsTer12
ENST00000527031.5:n.2279-4835_2279-4834insT
ENST00000527670.5:c.3170_3171insT	ENSP00000432511.1:p.Gln1058ProfsTer12
ENST00000534444.1:c.3170_3171insT	ENSP00000436421.1:p.Gln1058ProfsTer12
NM_000215.3:c.3170_3171insT , LRG_77t1:c.3170_3171insT	NP_000206.2:p.Gln1058ProfsTer12
XM_005259896.2:c.3299_3300insT	XP_005259953.1:p.Gln1101ProfsTer12
XM_006722745.2:c.3170_3171insT	XP_006722808.1:p.Gln1058ProfsTer12
XM_005259896.3:c.3299_3300insT	XP_005259953.1:p.Gln1101ProfsTer12
NM_000215.4:c.3170_3171insT MANE Select	NP_000206.2:p.Gln1058ProfsTer12