Canonical Allele Identifier: CA994143260

Gene: JAK3

Linked Data

• dbSNP Id: rs2094210003
• gnomAD v3: 19-17829625-TG-T
• gnomAD v4: 19-17829625-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829627del , CM000681.2:g.17829627del	GRCh38
NC_000019.9:g.17940436del , CM000681.1:g.17940436del	GRCh37
NC_000019.8:g.17801436del	NCBI36
NG_007273.1:g.23366del , LRG_77:g.23366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+482del	ENSP00000513006.1:n.*1764+482del
ENST00000696967.1:n.2384+482del
ENST00000696968.1:n.440+482del
ENST00000696969.1:n.2164+482del
ENST00000458235.7:c.3207+482del MANE Select	ENSP00000391676.1:n.3207+482del
ENST00000458235.5:c.3207+482del	ENSP00000391676.1:n.3207+482del
ENST00000527031.5:n.2279-4316del
ENST00000527670.5:c.3207+482del	ENSP00000432511.1:n.3207+482del
NM_000215.3:c.3207+482del , LRG_77t1:c.3207+482del	NP_000206.2:n.3207+482del
XM_005259896.2:c.3336+482del	XP_005259953.1:n.3336+482del
XM_006722745.2:c.3207+482del	XP_006722808.1:n.3207+482del
XM_005259896.3:c.3336+482del	XP_005259953.1:n.3336+482del
NM_000215.4:c.3207+482del MANE Select	NP_000206.2:n.3207+482del