Canonical Allele Identifier: CA2583423468

Gene: JAK3

Linked Data

• gnomAD v4: 19-17835007-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835010del , CM000681.2:g.17835010del	GRCh38
NC_000019.9:g.17945819del , CM000681.1:g.17945819del	GRCh37
NC_000019.8:g.17806819del	NCBI36
NG_007273.1:g.17984del , LRG_77:g.17984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*605-5del	ENSP00000513006.1:n.*605-5del
ENST00000696967.1:n.1225-5del
ENST00000696970.1:n.703-5del
ENST00000458235.7:c.2048-5del MANE Select	ENSP00000391676.1:n.2048-5del
ENST00000458235.5:c.2048-5del	ENSP00000391676.1:n.2048-5del
ENST00000527031.5:n.2278+1719del
ENST00000527670.5:c.2048-5del	ENSP00000432511.1:n.2048-5del
ENST00000534444.1:c.2048-5del	ENSP00000436421.1:n.2048-5del
NM_000215.3:c.2048-5del , LRG_77t1:c.2048-5del	NP_000206.2:n.2048-5del
XM_005259896.2:c.2177-5del	XP_005259953.1:n.2177-5del
XM_006722745.2:c.2048-5del	XP_006722808.1:n.2048-5del
XM_011527990.1:c.2177-5del	XP_011526292.1:n.2177-5del
XR_430137.2:n.2187-5del
XM_005259896.3:c.2177-5del	XP_005259953.1:n.2177-5del
NM_000215.4:c.2048-5del MANE Select	NP_000206.2:n.2048-5del