Canonical Allele Identifier: CA9301767

Gene: JAK3

Linked Data

• dbSNP Id: rs752296054
• ExAC: 19:17947844 T / TG
• gnomAD v2: 19-17947844-T-TG
• gnomAD v4: 19-17837035-T-TG
• MyVariant Identifiers: chr19:g.17947844_17947845insG (hg19) ; chr19:g.17837035_17837036insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837039dup , CM000681.2:g.17837039dup	GRCh38
NC_000019.9:g.17947848dup , CM000681.1:g.17947848dup	GRCh37
NC_000019.8:g.17808848dup	NCBI36
NG_007273.1:g.15956dup , LRG_77:g.15956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*343+93dup	ENSP00000513006.1:n.*343+93dup
ENST00000696967.1:n.963+93dup
ENST00000696970.1:n.441+93dup
ENST00000458235.7:c.1786+93dup MANE Select	ENSP00000391676.1:n.1786+93dup
ENST00000458235.5:c.1786+93dup	ENSP00000391676.1:n.1786+93dup
ENST00000527031.5:n.1969dup
ENST00000527670.5:c.1786+93dup	ENSP00000432511.1:n.1786+93dup
ENST00000534444.1:c.1786+93dup	ENSP00000436421.1:n.1786+93dup
NM_000215.3:c.1786+93dup , LRG_77t1:c.1786+93dup	NP_000206.2:n.1786+93dup
XM_005259896.2:c.1915+93dup	XP_005259953.1:n.1915+93dup
XM_006722745.2:c.1786+93dup	XP_006722808.1:n.1786+93dup
XM_011527990.1:c.1915+93dup	XP_011526292.1:n.1915+93dup
XM_011527991.1:c.1916-82dup	XP_011526293.1:n.1916-82dup
XR_430137.2:n.1925+93dup
XM_005259896.3:c.1915+93dup	XP_005259953.1:n.1915+93dup
XM_011527991.2:c.1916-82dup	XP_011526293.1:n.1916-82dup
NM_000215.4:c.1786+93dup MANE Select	NP_000206.2:n.1786+93dup