Canonical Allele Identifier: CA2326057885

Gene: JAK3

Linked Data

• dbSNP Id: rs2094246182
• gnomAD v4: 19-17844025-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844028_17844029del , CM000681.2:g.17844028_17844029del	GRCh38
NC_000019.9:g.17954837_17954838del , CM000681.1:g.17954837_17954838del	GRCh37
NC_000019.8:g.17815837_17815838del	NCBI36
NG_007273.1:g.8965_8966del , LRG_77:g.8965_8966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-127_185-126del	ENSP00000513006.1:n.185-127_185-126del
ENST00000458235.7:c.185-127_185-126del MANE Select	ENSP00000391676.1:n.185-127_185-126del
ENST00000458235.5:c.185-127_185-126del	ENSP00000391676.1:n.185-127_185-126del
ENST00000526008.5:n.285-127_285-126del
ENST00000527031.5:n.275-127_275-126del
ENST00000527670.5:c.185-127_185-126del	ENSP00000432511.1:n.185-127_185-126del
ENST00000528293.1:n.323+207_323+208del
ENST00000534444.1:c.185-127_185-126del	ENSP00000436421.1:n.185-127_185-126del
NM_000215.3:c.185-127_185-126del , LRG_77t1:c.185-127_185-126del	NP_000206.2:n.185-127_185-126del
XM_005259896.2:c.314-127_314-126del	XP_005259953.1:n.314-127_314-126del
XM_006722745.2:c.185-127_185-126del	XP_006722808.1:n.185-127_185-126del
XM_011527990.1:c.314-127_314-126del	XP_011526292.1:n.314-127_314-126del
XM_011527991.1:c.314-127_314-126del	XP_011526293.1:n.314-127_314-126del
XR_430137.2:n.324-127_324-126del
XM_005259896.3:c.314-127_314-126del	XP_005259953.1:n.314-127_314-126del
XM_011527991.2:c.314-127_314-126del	XP_011526293.1:n.314-127_314-126del
NM_000215.4:c.185-127_185-126del MANE Select	NP_000206.2:n.185-127_185-126del