Canonical Allele Identifier: CA214096

Gene: JAK3

Linked Data

• ClinVar Variation Id: 36423
• ClinVar RCV Id: RCV000030095 ; RCV000255037 ; RCV002051797
• dbSNP Id: rs193922364
• ExAC: 19:17953306 CAG / C
• gnomAD v2: 19-17953306-CAG-C
• gnomAD v4: 19-17842497-CAG-C
• MyVariant Identifiers: chr19:g.17953307_17953308del (hg19) ; chr19:g.17842498_17842499del (hg38)
• ERepo: CA214096/MONDO:0010938/121

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842498_17842499del , CM000681.2:g.17842498_17842499del	GRCh38
NC_000019.9:g.17953307_17953308del , CM000681.1:g.17953307_17953308del	GRCh37
NC_000019.8:g.17814307_17814308del	NCBI36
NG_007273.1:g.10493_10494del , LRG_77:g.10493_10494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.678_679del	ENSP00000513006.1:p.Cys227ProfsTer?
ENST00000458235.7:c.678_679del MANE Select	ENSP00000391676.1:p.Cys227ProfsTer?
ENST00000458235.5:c.678_679del	ENSP00000391676.1:p.Cys227ProfsTer?
ENST00000526008.5:n.778_779del
ENST00000527031.5:n.768_769del
ENST00000527670.5:c.678_679del	ENSP00000432511.1:p.Cys227ProfsTer?
ENST00000528293.1:n.1109_1110del
ENST00000528705.1:n.27_28del
ENST00000534444.1:c.678_679del	ENSP00000436421.1:p.Cys227ProfsTer?
NM_000215.3:c.678_679del , LRG_77t1:c.678_679del	NP_000206.2:p.Cys227ProfsTer?
XM_005259896.2:c.807_808del	XP_005259953.1:p.Cys270ProfsTer?
XM_006722745.2:c.678_679del	XP_006722808.1:p.Cys227ProfsTer?
XM_011527990.1:c.807_808del	XP_011526292.1:p.Cys270ProfsTer?
XM_011527991.1:c.807_808del	XP_011526293.1:p.Cys270ProfsTer?
XR_430137.2:n.817_818del
XM_005259896.3:c.807_808del	XP_005259953.1:p.Cys270ProfsTer?
XM_011527991.2:c.807_808del	XP_011526293.1:p.Cys270ProfsTer?
NM_000215.4:c.678_679del MANE Select	NP_000206.2:p.Cys227ProfsTer?