Canonical Allele Identifier: CA2326051183

Gene: JAK3

Linked Data

• dbSNP Id: rs2094210705
• gnomAD v4: 19-17829957-T-TCACTCTGAAAGTGCTCTGACTTGCCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829957_17829958insCACTCTGAAAGTGCTCTGACTTGCCACA , CM000681.2:g.17829957_17829958insCACTCTGAAAGTGCTCTGACTTGCCACA	GRCh38
NC_000019.9:g.17940766_17940767insCACTCTGAAAGTGCTCTGACTTGCCACA , CM000681.1:g.17940766_17940767insCACTCTGAAAGTGCTCTGACTTGCCACA	GRCh37
NC_000019.8:g.17801766_17801767insCACTCTGAAAGTGCTCTGACTTGCCACA	NCBI36
NG_007273.1:g.23034_23035insTGTGGCAAGTCAGAGCACTTTCAGAGTG , LRG_77:g.23034_23035insTGTGGCAAGTCAGAGCACTTTCAGAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+150_*1764+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	ENSP00000513006.1:n.*1764+150_*1764+151in...
ENST00000696967.1:n.2384+150_2384+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG
ENST00000696968.1:n.440+150_440+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG
ENST00000696969.1:n.2164+150_2164+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG
ENST00000458235.7:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG MANE Select	ENSP00000391676.1:n.3207+150_3207+151insT...
ENST00000458235.5:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	ENSP00000391676.1:n.3207+150_3207+151insT...
ENST00000527031.5:n.2279-4648_2279-4647insTGTGGCAAGTCAGAGCACTTTCAGAGTG
ENST00000527670.5:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	ENSP00000432511.1:n.3207+150_3207+151insT...
ENST00000534444.1:c.*72_*73insTGTGGCAAGTCAGAGCACTTTCAGAGTG	ENSP00000436421.1:n.*72_*73insTGTGGCAAGTC...
NM_000215.3:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG , LRG_77t1:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	NP_000206.2:n.3207+150_3207+151insTGTGGCA...
XM_005259896.2:c.3336+150_3336+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	XP_005259953.1:n.3336+150_3336+151insTGTG...
XM_006722745.2:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	XP_006722808.1:n.3207+150_3207+151insTGTG...
XM_005259896.3:c.3336+150_3336+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG	XP_005259953.1:n.3336+150_3336+151insTGTG...
NM_000215.4:c.3207+150_3207+151insTGTGGCAAGTCAGAGCACTTTCAGAGTG MANE Select	NP_000206.2:n.3207+150_3207+151insTGTGGCA...