Allele Registry

Canonical Allele Identifier: CA278860

Gene: GPC6 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr13:g.94027795del

GRCh37 chr13:g.94680049del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000005888

ClinVar Variation:

5549

dbSNP:

863223282

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94027795del , CM000675.2:g.94027795del	GRCh38
NC_000013.10:g.94680049del , CM000675.1:g.94680049del	GRCh37
NC_000013.9:g.93478050del	NCBI36
NG_011880.1:g.805972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.778del MANE Select	ENSP00000366246.3:p.Leu260PhefsTer4
ENST00000377047.8:c.778del	ENSP00000366246.3:p.Leu260PhefsTer4
NM_005708.3:c.778del	NP_005699.1:p.Leu260PhefsTer4
XM_011521044.1:c.568del	XP_011519346.1:p.Leu190PhefsTer4
NM_005708.4:c.778del	NP_005699.1:p.Leu260PhefsTer4
XM_011521044.2:c.568del	XP_011519346.1:p.Leu190PhefsTer4
XM_017020298.1:c.568del	XP_016875787.1:p.Leu190PhefsTer4
XM_017020299.2:c.568del	XP_016875788.1:p.Leu190PhefsTer4
XM_017020300.1:c.568del	XP_016875789.1:p.Leu190PhefsTer4
XM_017020301.1:c.412del	XP_016875790.1:p.Leu138PhefsTer4
NM_005708.5:c.778del MANE Select	NP_005699.1:p.Leu260PhefsTer4

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