Canonical Allele Identifier: CA506002831

Gene: JAK3

Linked Data

• dbSNP Id: rs1555742978
• MyVariant Identifiers: chr19:g.17940942_17940943del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830133_17830134del , CM000681.2:g.17830133_17830134del	GRCh38
NC_000019.9:g.17940942_17940943del , CM000681.1:g.17940942_17940943del	GRCh37
NC_000019.8:g.17801942_17801943del	NCBI36
NG_007273.1:g.22858_22859del , LRG_77:g.22858_22859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1738_*1739del	ENSP00000513006.1:n.*1738_*1739del
ENST00000696967.1:n.2358_2359del
ENST00000696968.1:n.414_415del
ENST00000696969.1:n.2138_2139del
ENST00000458235.7:c.3181_3182del MANE Select	ENSP00000391676.1:p.Pro1061GlyfsTer8
ENST00000458235.5:c.3181_3182del	ENSP00000391676.1:p.Pro1061GlyfsTer8
ENST00000527031.5:n.2279-4824_2279-4823del
ENST00000527670.5:c.3181_3182del	ENSP00000432511.1:p.Pro1061GlyfsTer8
ENST00000534444.1:c.3181_3182del	ENSP00000436421.1:p.Pro1061GlyfsTer8
NM_000215.3:c.3181_3182del , LRG_77t1:c.3181_3182del	NP_000206.2:p.Pro1061GlyfsTer8
XM_005259896.2:c.3310_3311del	XP_005259953.1:p.Pro1104GlyfsTer8
XM_006722745.2:c.3181_3182del	XP_006722808.1:p.Pro1061GlyfsTer8
XM_005259896.3:c.3310_3311del	XP_005259953.1:p.Pro1104GlyfsTer8
NM_000215.4:c.3181_3182del MANE Select	NP_000206.2:p.Pro1061GlyfsTer8