Canonical Allele Identifier: CA306122333

Gene: JAK3

Linked Data

• dbSNP Id: rs913353337
• gnomAD v2: 19-17940763-CAGTG-C
• gnomAD v3: 19-17829954-CAGTG-C
• gnomAD v4: 19-17829954-CAGTG-C
• MyVariant Identifiers: chr19:g.17940764_17940767del (hg19) ; chr19:g.17829955_17829958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829957_17829960del , CM000681.2:g.17829957_17829960del	GRCh38
NC_000019.9:g.17940766_17940769del , CM000681.1:g.17940766_17940769del	GRCh37
NC_000019.8:g.17801766_17801769del	NCBI36
NG_007273.1:g.23034_23037del , LRG_77:g.23034_23037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+150_*1764+153del	ENSP00000513006.1:n.*1764+150_*1764+153de...
ENST00000696967.1:n.2384+150_2384+153del
ENST00000696968.1:n.440+150_440+153del
ENST00000696969.1:n.2164+150_2164+153del
ENST00000458235.7:c.3207+150_3207+153del MANE Select	ENSP00000391676.1:n.3207+150_3207+153del
ENST00000458235.5:c.3207+150_3207+153del	ENSP00000391676.1:n.3207+150_3207+153del
ENST00000527031.5:n.2279-4648_2279-4645del
ENST00000527670.5:c.3207+150_3207+153del	ENSP00000432511.1:n.3207+150_3207+153del
ENST00000534444.1:c.*72_*75del	ENSP00000436421.1:n.*72_*75del
NM_000215.3:c.3207+150_3207+153del , LRG_77t1:c.3207+150_3207+153del	NP_000206.2:n.3207+150_3207+153del
XM_005259896.2:c.3336+150_3336+153del	XP_005259953.1:n.3336+150_3336+153del
XM_006722745.2:c.3207+150_3207+153del	XP_006722808.1:n.3207+150_3207+153del
XM_005259896.3:c.3336+150_3336+153del	XP_005259953.1:n.3336+150_3336+153del
NM_000215.4:c.3207+150_3207+153del MANE Select	NP_000206.2:n.3207+150_3207+153del