Canonical Allele Identifier: CA2583426540

Gene: JAK3

Linked Data

• gnomAD v4: 19-17844002-A-AGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844003_17844004insACAGG , CM000681.2:g.17844003_17844004insACAGG	GRCh38
NC_000019.9:g.17954812_17954813insACAGG , CM000681.1:g.17954812_17954813insACAGG	GRCh37
NC_000019.8:g.17815812_17815813insACAGG	NCBI36
NG_007273.1:g.8989_8990insCTGTC , LRG_77:g.8989_8990insCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-103_185-102insCTGTC	ENSP00000513006.1:n.185-103_185-102insCTGTC
ENST00000458235.7:c.185-103_185-102insCTGTC MANE Select	ENSP00000391676.1:n.185-103_185-102insCTGTC
ENST00000458235.5:c.185-103_185-102insCTGTC	ENSP00000391676.1:n.185-103_185-102insCTGTC
ENST00000526008.5:n.285-103_285-102insCTGTC
ENST00000527031.5:n.275-103_275-102insCTGTC
ENST00000527670.5:c.185-103_185-102insCTGTC	ENSP00000432511.1:n.185-103_185-102insCTGTC
ENST00000528293.1:n.323+231_323+232insCTGTC
ENST00000534444.1:c.185-103_185-102insCTGTC	ENSP00000436421.1:n.185-103_185-102insCTGTC
NM_000215.3:c.185-103_185-102insCTGTC , LRG_77t1:c.185-103_185-102insCTGTC	NP_000206.2:n.185-103_185-102insCTGTC
XM_005259896.2:c.314-103_314-102insCTGTC	XP_005259953.1:n.314-103_314-102insCTGTC
XM_006722745.2:c.185-103_185-102insCTGTC	XP_006722808.1:n.185-103_185-102insCTGTC
XM_011527990.1:c.314-103_314-102insCTGTC	XP_011526292.1:n.314-103_314-102insCTGTC
XM_011527991.1:c.314-103_314-102insCTGTC	XP_011526293.1:n.314-103_314-102insCTGTC
XR_430137.2:n.324-103_324-102insCTGTC
XM_005259896.3:c.314-103_314-102insCTGTC	XP_005259953.1:n.314-103_314-102insCTGTC
XM_011527991.2:c.314-103_314-102insCTGTC	XP_011526293.1:n.314-103_314-102insCTGTC
NM_000215.4:c.185-103_185-102insCTGTC MANE Select	NP_000206.2:n.185-103_185-102insCTGTC