Canonical Allele Identifier: CA2576717126

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834624_17834634del , CM000681.2:g.17834624_17834634del	GRCh38
NC_000019.9:g.17945433_17945443del , CM000681.1:g.17945433_17945443del	GRCh37
NC_000019.8:g.17806433_17806443del	NCBI36
NG_007273.1:g.18361_18371del , LRG_77:g.18361_18371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*847_*857del	ENSP00000513006.1:n.*847_*857del
ENST00000696967.1:n.1467_1477del
ENST00000696970.1:n.945_955del
ENST00000458235.7:c.2290_2300del MANE Select	ENSP00000391676.1:p.Pro764AlafsTer9
ENST00000458235.5:c.2290_2300del	ENSP00000391676.1:p.Pro764AlafsTer9
ENST00000527031.5:n.2278+2096_2278+2106del
ENST00000527670.5:c.2290_2300del	ENSP00000432511.1:p.Pro764AlafsTer9
ENST00000534444.1:c.2290_2300del	ENSP00000436421.1:p.Pro764AlafsTer9
NM_000215.3:c.2290_2300del , LRG_77t1:c.2290_2300del	NP_000206.2:p.Pro764AlafsTer9
XM_005259896.2:c.2419_2429del	XP_005259953.1:p.Pro807AlafsTer9
XM_006722745.2:c.2290_2300del	XP_006722808.1:p.Pro764AlafsTer9
XM_011527990.1:c.2419_2429del	XP_011526292.1:p.Pro807AlafsTer9
XR_430137.2:n.2429_2439del
XM_005259896.3:c.2419_2429del	XP_005259953.1:p.Pro807AlafsTer9
NM_000215.4:c.2290_2300del MANE Select	NP_000206.2:p.Pro764AlafsTer9