Canonical Allele Identifier: CA994150361

Gene: JAK3

Linked Data

• dbSNP Id: rs2094243367
• gnomAD v3: 19-17842898-GC-G
• gnomAD v4: 19-17842898-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842901del , CM000681.2:g.17842901del	GRCh38
NC_000019.9:g.17953710del , CM000681.1:g.17953710del	GRCh37
NC_000019.8:g.17814710del	NCBI36
NG_007273.1:g.10093del , LRG_77:g.10093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+128del	ENSP00000513006.1:n.566+128del
ENST00000458235.7:c.566+128del MANE Select	ENSP00000391676.1:n.566+128del
ENST00000458235.5:c.566+128del	ENSP00000391676.1:n.566+128del
ENST00000526008.5:n.666+128del
ENST00000527031.5:n.656+128del
ENST00000527670.5:c.566+128del	ENSP00000432511.1:n.566+128del
ENST00000528293.1:n.709del
ENST00000534444.1:c.566+128del	ENSP00000436421.1:n.566+128del
NM_000215.3:c.566+128del , LRG_77t1:c.566+128del	NP_000206.2:n.566+128del
XM_005259896.2:c.695+128del	XP_005259953.1:n.695+128del
XM_006722745.2:c.566+128del	XP_006722808.1:n.566+128del
XM_011527990.1:c.695+128del	XP_011526292.1:n.695+128del
XM_011527991.1:c.695+128del	XP_011526293.1:n.695+128del
XR_430137.2:n.705+128del
XM_005259896.3:c.695+128del	XP_005259953.1:n.695+128del
XM_011527991.2:c.695+128del	XP_011526293.1:n.695+128del
NM_000215.4:c.566+128del MANE Select	NP_000206.2:n.566+128del