Canonical Allele Identifier: CA9302191

Gene: JAK3

Linked Data

• dbSNP Id: rs756882450
• ExAC: 19:17954301 CTG / C
• gnomAD v2: 19-17954301-CTG-C
• gnomAD v3: 19-17843492-CTG-C
• gnomAD v4: 19-17843492-CTG-C
• MyVariant Identifiers: chr19:g.17954302_17954303del (hg19) ; chr19:g.17843494_17843495del (hg38) ; chr19:g.17843493_17843494del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843495_17843496del , CM000681.2:g.17843495_17843496del	GRCh38
NC_000019.9:g.17954304_17954305del , CM000681.1:g.17954304_17954305del	GRCh37
NC_000019.8:g.17815304_17815305del	NCBI36
NG_007273.1:g.9498_9499del , LRG_77:g.9498_9499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.309-3_309-2del	ENSP00000513006.1:n.309-3_309-2del
ENST00000458235.7:c.309-3_309-2del MANE Select	ENSP00000391676.1:n.309-3_309-2del
ENST00000458235.5:c.309-3_309-2del	ENSP00000391676.1:n.309-3_309-2del
ENST00000526008.5:n.409-3_409-2del
ENST00000527031.5:n.399-3_399-2del
ENST00000527670.5:c.309-3_309-2del	ENSP00000432511.1:n.309-3_309-2del
ENST00000528293.1:n.324-3_324-2del
ENST00000534444.1:c.309-3_309-2del	ENSP00000436421.1:n.309-3_309-2del
NM_000215.3:c.309-3_309-2del , LRG_77t1:c.309-3_309-2del	NP_000206.2:n.309-3_309-2del
XM_005259896.2:c.438-3_438-2del	XP_005259953.1:n.438-3_438-2del
XM_006722745.2:c.309-3_309-2del	XP_006722808.1:n.309-3_309-2del
XM_011527990.1:c.438-3_438-2del	XP_011526292.1:n.438-3_438-2del
XM_011527991.1:c.438-3_438-2del	XP_011526293.1:n.438-3_438-2del
XR_430137.2:n.448-3_448-2del
XM_005259896.3:c.438-3_438-2del	XP_005259953.1:n.438-3_438-2del
XM_011527991.2:c.438-3_438-2del	XP_011526293.1:n.438-3_438-2del
NM_000215.4:c.309-3_309-2del MANE Select	NP_000206.2:n.309-3_309-2del