Canonical Allele Identifier: CA9301397

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2843756
• ClinVar RCV Id: RCV003623112
• dbSNP Id: rs747834953
• ExAC: 19:17940899 T / TA
• gnomAD v2: 19-17940899-T-TA
• gnomAD v4: 19-17830090-T-TA
• MyVariant Identifiers: chr19:g.17940899_17940900insA (hg19) ; chr19:g.17830090_17830091insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830091dup , CM000681.2:g.17830091dup	GRCh38
NC_000019.9:g.17940900dup , CM000681.1:g.17940900dup	GRCh37
NC_000019.8:g.17801900dup	NCBI36
NG_007273.1:g.22901dup , LRG_77:g.22901dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+17dup	ENSP00000513006.1:n.*1764+17dup
ENST00000696967.1:n.2384+17dup
ENST00000696968.1:n.440+17dup
ENST00000696969.1:n.2164+17dup
ENST00000458235.7:c.3207+17dup MANE Select	ENSP00000391676.1:n.3207+17dup
ENST00000458235.5:c.3207+17dup	ENSP00000391676.1:n.3207+17dup
ENST00000527031.5:n.2279-4781dup
ENST00000527670.5:c.3207+17dup	ENSP00000432511.1:n.3207+17dup
ENST00000534444.1:c.3224dup	ENSP00000436421.1:p.Ala1076SerfsTer29
NM_000215.3:c.3207+17dup , LRG_77t1:c.3207+17dup	NP_000206.2:n.3207+17dup
XM_005259896.2:c.3336+17dup	XP_005259953.1:n.3336+17dup
XM_006722745.2:c.3207+17dup	XP_006722808.1:n.3207+17dup
XM_005259896.3:c.3336+17dup	XP_005259953.1:n.3336+17dup
NM_000215.4:c.3207+17dup MANE Select	NP_000206.2:n.3207+17dup