Canonical Allele Identifier: CA2583426171

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843035-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843037del , CM000681.2:g.17843037del	GRCh38
NC_000019.9:g.17953846del , CM000681.1:g.17953846del	GRCh37
NC_000019.8:g.17814846del	NCBI36
NG_007273.1:g.9956del , LRG_77:g.9956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.557del	ENSP00000513006.1:p.Lys186ArgfsTer16
ENST00000458235.7:c.557del MANE Select	ENSP00000391676.1:p.Lys186ArgfsTer16
ENST00000458235.5:c.557del	ENSP00000391676.1:p.Lys186ArgfsTer16
ENST00000526008.5:n.657del
ENST00000527031.5:n.647del
ENST00000527670.5:c.557del	ENSP00000432511.1:p.Lys186ArgfsTer16
ENST00000528293.1:n.572del
ENST00000534444.1:c.557del	ENSP00000436421.1:p.Lys186ArgfsTer16
NM_000215.3:c.557del , LRG_77t1:c.557del	NP_000206.2:p.Lys186ArgfsTer16
XM_005259896.2:c.686del	XP_005259953.1:p.Lys229ArgfsTer16
XM_006722745.2:c.557del	XP_006722808.1:p.Lys186ArgfsTer16
XM_011527990.1:c.686del	XP_011526292.1:p.Lys229ArgfsTer16
XM_011527991.1:c.686del	XP_011526293.1:p.Lys229ArgfsTer16
XR_430137.2:n.696del
XM_005259896.3:c.686del	XP_005259953.1:p.Lys229ArgfsTer16
XM_011527991.2:c.686del	XP_011526293.1:p.Lys229ArgfsTer16
NM_000215.4:c.557del MANE Select	NP_000206.2:p.Lys186ArgfsTer16