Canonical Allele Identifier: CA920072667

Gene: JAK3

Linked Data

• dbSNP Id: rs1599865468
• gnomAD v4: 19-17829767-GAAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829771_17829775del , CM000681.2:g.17829771_17829775del	GRCh38
NC_000019.9:g.17940580_17940584del , CM000681.1:g.17940580_17940584del	GRCh37
NC_000019.8:g.17801580_17801584del	NCBI36
NG_007273.1:g.23220_23224del , LRG_77:g.23220_23224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+336_*1764+340del	ENSP00000513006.1:n.*1764+336_*1764+340del
ENST00000696967.1:n.2384+336_2384+340del
ENST00000696968.1:n.440+336_440+340del
ENST00000696969.1:n.2164+336_2164+340del
ENST00000458235.7:c.3207+336_3207+340del MANE Select	ENSP00000391676.1:n.3207+336_3207+340del
ENST00000458235.5:c.3207+336_3207+340del	ENSP00000391676.1:n.3207+336_3207+340del
ENST00000527031.5:n.2279-4462_2279-4458del
ENST00000527670.5:c.3207+336_3207+340del	ENSP00000432511.1:n.3207+336_3207+340del
NM_000215.3:c.3207+336_3207+340del , LRG_77t1:c.3207+336_3207+340del	NP_000206.2:n.3207+336_3207+340del
XM_005259896.2:c.3336+336_3336+340del	XP_005259953.1:n.3336+336_3336+340del
XM_006722745.2:c.3207+336_3207+340del	XP_006722808.1:n.3207+336_3207+340del
XM_005259896.3:c.3336+336_3336+340del	XP_005259953.1:n.3336+336_3336+340del
NM_000215.4:c.3207+336_3207+340del MANE Select	NP_000206.2:n.3207+336_3207+340del