Canonical Allele Identifier: CA994143327

Gene: JAK3

Linked Data

• dbSNP Id: rs59186613
• gnomAD v3: 19-17829771-GAA-G
• gnomAD v4: 19-17829771-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829781_17829782del , CM000681.2:g.17829781_17829782del	GRCh38
NC_000019.9:g.17940590_17940591del , CM000681.1:g.17940590_17940591del	GRCh37
NC_000019.8:g.17801590_17801591del	NCBI36
NG_007273.1:g.23219_23220del , LRG_77:g.23219_23220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+335_*1764+336del	ENSP00000513006.1:n.*1764+335_*1764+336del
ENST00000696967.1:n.2384+335_2384+336del
ENST00000696968.1:n.440+335_440+336del
ENST00000696969.1:n.2164+335_2164+336del
ENST00000458235.7:c.3207+335_3207+336del MANE Select	ENSP00000391676.1:n.3207+335_3207+336del
ENST00000458235.5:c.3207+335_3207+336del	ENSP00000391676.1:n.3207+335_3207+336del
ENST00000527031.5:n.2279-4463_2279-4462del
ENST00000527670.5:c.3207+335_3207+336del	ENSP00000432511.1:n.3207+335_3207+336del
NM_000215.3:c.3207+335_3207+336del , LRG_77t1:c.3207+335_3207+336del	NP_000206.2:n.3207+335_3207+336del
XM_005259896.2:c.3336+335_3336+336del	XP_005259953.1:n.3336+335_3336+336del
XM_006722745.2:c.3207+335_3207+336del	XP_006722808.1:n.3207+335_3207+336del
XM_005259896.3:c.3336+335_3336+336del	XP_005259953.1:n.3336+335_3336+336del
NM_000215.4:c.3207+335_3207+336del MANE Select	NP_000206.2:n.3207+335_3207+336del