Canonical Allele Identifier: CA2739276630

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2853266
• ClinVar RCV Id: RCV003623279

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834658del , CM000681.2:g.17834658del	GRCh38
NC_000019.9:g.17945467del , CM000681.1:g.17945467del	GRCh37
NC_000019.8:g.17806467del	NCBI36
NG_007273.1:g.18334del , LRG_77:g.18334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*820del	ENSP00000513006.1:n.*820del
ENST00000696967.1:n.1440del
ENST00000696970.1:n.918del
ENST00000458235.7:c.2263del MANE Select	ENSP00000391676.1:p.Leu755Ter
ENST00000458235.5:c.2263del	ENSP00000391676.1:p.Leu755Ter
ENST00000527031.5:n.2278+2069del
ENST00000527670.5:c.2263del	ENSP00000432511.1:p.Leu755Ter
ENST00000534444.1:c.2263del	ENSP00000436421.1:p.Leu755Ter
NM_000215.3:c.2263del , LRG_77t1:c.2263del	NP_000206.2:p.Leu755Ter
XM_005259896.2:c.2392del	XP_005259953.1:p.Leu798Ter
XM_006722745.2:c.2263del	XP_006722808.1:p.Leu755Ter
XM_011527990.1:c.2392del	XP_011526292.1:p.Leu798Ter
XR_430137.2:n.2402del
XM_005259896.3:c.2392del	XP_005259953.1:p.Leu798Ter
NM_000215.4:c.2263del MANE Select	NP_000206.2:p.Leu755Ter