Canonical Allele Identifier: CA632066085

Gene: JAK3

Linked Data

• dbSNP Id: rs1568400611
• gnomAD v2: 19-17940864-AC-A
• gnomAD v4: 19-17830055-AC-A
• MyVariant Identifiers: chr19:g.17940865del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830059del , CM000681.2:g.17830059del	GRCh38
NC_000019.9:g.17940868del , CM000681.1:g.17940868del	GRCh37
NC_000019.8:g.17801868del	NCBI36
NG_007273.1:g.22936del , LRG_77:g.22936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+52del	ENSP00000513006.1:n.*1764+52del
ENST00000696967.1:n.2384+52del
ENST00000696968.1:n.440+52del
ENST00000696969.1:n.2164+52del
ENST00000458235.7:c.3207+52del MANE Select	ENSP00000391676.1:n.3207+52del
ENST00000458235.5:c.3207+52del	ENSP00000391676.1:n.3207+52del
ENST00000527031.5:n.2279-4746del
ENST00000527670.5:c.3207+52del	ENSP00000432511.1:n.3207+52del
ENST00000534444.1:c.3259del	ENSP00000436421.1:p.Val1087SerfsTer13
NM_000215.3:c.3207+52del , LRG_77t1:c.3207+52del	NP_000206.2:n.3207+52del
XM_005259896.2:c.3336+52del	XP_005259953.1:n.3336+52del
XM_006722745.2:c.3207+52del	XP_006722808.1:n.3207+52del
XM_005259896.3:c.3336+52del	XP_005259953.1:n.3336+52del
NM_000215.4:c.3207+52del MANE Select	NP_000206.2:n.3207+52del