Canonical Allele Identifier: CA2326051214

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830019_17830020delinsAG , CM000681.2:g.17830019_17830020delinsAG	GRCh38
NC_000019.9:g.17940828_17940829delinsAG , CM000681.1:g.17940828_17940829delinsAG	GRCh37
NC_000019.8:g.17801828_17801829delinsAG	NCBI36
NG_007273.1:g.22972_22973delinsCT , LRG_77:g.22972_22973delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+88_*1764+89delinsCT	ENSP00000513006.1:n.*1764+88_*1764+89delinsCT
ENST00000696967.1:n.2384+88_2384+89delinsCT
ENST00000696968.1:n.440+88_440+89delinsCT
ENST00000696969.1:n.2164+88_2164+89delinsCT
ENST00000458235.7:c.3207+88_3207+89delinsCT MANE Select	ENSP00000391676.1:n.3207+88_3207+89delinsCT
ENST00000458235.5:c.3207+88_3207+89delinsCT	ENSP00000391676.1:n.3207+88_3207+89delinsCT
ENST00000527031.5:n.2279-4710_2279-4709delinsCT
ENST00000527670.5:c.3207+88_3207+89delinsCT	ENSP00000432511.1:n.3207+88_3207+89delinsCT
ENST00000534444.1:c.*10_*11delinsCT	ENSP00000436421.1:n.*10_*11delinsCT
NM_000215.3:c.3207+88_3207+89delinsCT , LRG_77t1:c.3207+88_3207+89delinsCT	NP_000206.2:n.3207+88_3207+89delinsCT
XM_005259896.2:c.3336+88_3336+89delinsCT	XP_005259953.1:n.3336+88_3336+89delinsCT
XM_006722745.2:c.3207+88_3207+89delinsCT	XP_006722808.1:n.3207+88_3207+89delinsCT
XM_005259896.3:c.3336+88_3336+89delinsCT	XP_005259953.1:n.3336+88_3336+89delinsCT
NM_000215.4:c.3207+88_3207+89delinsCT MANE Select	NP_000206.2:n.3207+88_3207+89delinsCT