Canonical Allele Identifier: CA321816

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 4587
• ClinVar RCV Id: RCV000004849 ; RCV000197366 ; RCV002310623 ; RCV003390642
• dbSNP Id: rs587776600
• ExAC: 20:45355546 AG / A
• gnomAD v2: 20-45355546-AG-A
• gnomAD v3: 20-46726907-AG-A
• gnomAD v4: 20-46726907-AG-A
• MyVariant Identifiers: chr20:g.45355548del (hg19) ; chr20:g.45355547del (hg19) ; chr20:g.46726909del (hg38) ; chr20:g.46726908del (hg38)
• PubMed: PMID:14569121 ; PMID:16550171 ; PMID:17935213 ; PMID:19781076 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726909del , CM000682.2:g.46726909del	GRCh38
NC_000020.10:g.45355548del , CM000682.1:g.45355548del	GRCh37
NC_000020.9:g.44788955del	NCBI36
NG_016284.1:g.22270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1334del MANE Select	ENSP00000352216.2:p.Gly445GlufsTer?
ENST00000359271.3:c.1334del	ENSP00000352216.2:p.Gly445GlufsTer?
NM_030777.3:c.1334del	NP_110404.1:p.Gly445GlufsTer?
XM_011529060.1:c.1397del	XP_011527362.1:p.Gly466GlufsTer?
XM_011529061.1:c.1343del	XP_011527363.1:p.Gly448GlufsTer?
XM_011529062.1:c.1446del	XP_011527364.1:p.Lys483ArgfsTer29
XM_011529063.1:c.1397del	XP_011527365.1:p.Gly466GlufsTer?
XM_011529064.1:c.1446del	XP_011527366.1:p.Lys483ArgfsTer?
XM_011529065.1:c.1397del	XP_011527367.1:p.Gly466GlufsTer?
XR_936641.1:n.1582del
XM_011529060.2:c.1397del	XP_011527362.1:p.Gly466GlufsTer?
XM_011529061.2:c.1343del	XP_011527363.1:p.Gly448GlufsTer?
XM_011529062.2:c.1446del	XP_011527364.1:p.Lys483ArgfsTer29
XM_011529063.2:c.1397del	XP_011527365.1:p.Gly466GlufsTer?
XM_011529064.2:c.1446del	XP_011527366.1:p.Lys483ArgfsTer?
XM_011529065.2:c.1397del	XP_011527367.1:p.Gly466GlufsTer?
XM_017028087.2:c.1334del	XP_016883576.1:p.Gly445GlufsTer?
XR_936641.2:n.1569del
NM_030777.4:c.1334del MANE Select	NP_110404.1:p.Gly445GlufsTer?