Canonical Allele Identifier: CA702448054

Gene: GPC6 GPC6-AS2

Linked Data

• dbSNP Id: rs369020255
• gnomAD v3: 13-93830612-TAAAAAAAAA-T
• gnomAD v4: 13-93830612-TAAAAAAAAA-T
• MyVariant Identifiers: chr13:g.94482866_94482874del (hg19) ; chr13:g.93830613_93830621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93830630_93830638del , CM000675.2:g.93830630_93830638del	GRCh38
NC_000013.10:g.94482883_94482891del , CM000675.1:g.94482883_94482891del	GRCh37
NC_000013.9:g.93280884_93280892del	NCBI36
NG_011880.1:g.608806_608814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.711+85_711+93del (GPC6) MANE Select	ENSP00000366246.3:n.711+85_711+93del
ENST00000377047.8:c.711+85_711+93del (GPC6)	ENSP00000366246.3:n.711+85_711+93del
NM_005708.3:c.711+85_711+93del (GPC6)	NP_005699.1:n.711+85_711+93del
NR_046536.1:n.380+195_380+203del (GPC6-AS2)
XM_011521044.1:c.501+85_501+93del (GPC6)	XP_011519346.1:n.501+85_501+93del
NM_005708.4:c.711+85_711+93del (GPC6)	NP_005699.1:n.711+85_711+93del
XM_011521044.2:c.501+85_501+93del (GPC6)	XP_011519346.1:n.501+85_501+93del
XM_017020298.1:c.501+85_501+93del (GPC6)	XP_016875787.1:n.501+85_501+93del
XM_017020299.2:c.501+85_501+93del (GPC6)	XP_016875788.1:n.501+85_501+93del
XM_017020300.1:c.501+85_501+93del (GPC6)	XP_016875789.1:n.501+85_501+93del
XM_017020301.1:c.345+85_345+93del (GPC6)	XP_016875790.1:n.345+85_345+93del
NM_005708.5:c.711+85_711+93del (GPC6) MANE Select	NP_005699.1:n.711+85_711+93del