Canonical Allele Identifier: CA2583426112

Gene: JAK3

Linked Data

• gnomAD v4: 19-17842946-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842949del , CM000681.2:g.17842949del	GRCh38
NC_000019.9:g.17953758del , CM000681.1:g.17953758del	GRCh37
NC_000019.8:g.17814758del	NCBI36
NG_007273.1:g.10045del , LRG_77:g.10045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+80del	ENSP00000513006.1:n.566+80del
ENST00000458235.7:c.566+80del MANE Select	ENSP00000391676.1:n.566+80del
ENST00000458235.5:c.566+80del	ENSP00000391676.1:n.566+80del
ENST00000526008.5:n.666+80del
ENST00000527031.5:n.656+80del
ENST00000527670.5:c.566+80del	ENSP00000432511.1:n.566+80del
ENST00000528293.1:n.661del
ENST00000534444.1:c.566+80del	ENSP00000436421.1:n.566+80del
NM_000215.3:c.566+80del , LRG_77t1:c.566+80del	NP_000206.2:n.566+80del
XM_005259896.2:c.695+80del	XP_005259953.1:n.695+80del
XM_006722745.2:c.566+80del	XP_006722808.1:n.566+80del
XM_011527990.1:c.695+80del	XP_011526292.1:n.695+80del
XM_011527991.1:c.695+80del	XP_011526293.1:n.695+80del
XR_430137.2:n.705+80del
XM_005259896.3:c.695+80del	XP_005259953.1:n.695+80del
XM_011527991.2:c.695+80del	XP_011526293.1:n.695+80del
NM_000215.4:c.566+80del MANE Select	NP_000206.2:n.566+80del