Canonical Allele Identifier: CA611888896

Gene: GPC6 GPC6-AS2

Linked Data

• dbSNP Id: rs1446146020
• gnomAD v2: 13-94482895-AGGT-A
• gnomAD v4: 13-93830642-AGGT-A
• MyVariant Identifiers: chr13:g.94482896_94482898del (hg19) ; chr13:g.93830643_93830645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93830643_93830645del , CM000675.2:g.93830643_93830645del	GRCh38
NC_000013.10:g.94482896_94482898del , CM000675.1:g.94482896_94482898del	GRCh37
NC_000013.9:g.93280897_93280899del	NCBI36
NG_011880.1:g.608819_608821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.711+98_711+100del (GPC6) MANE Select	ENSP00000366246.3:n.711+98_711+100del
ENST00000377047.8:c.711+98_711+100del (GPC6)	ENSP00000366246.3:n.711+98_711+100del
NM_005708.3:c.711+98_711+100del (GPC6)	NP_005699.1:n.711+98_711+100del
NR_046536.1:n.380+171_380+173del (GPC6-AS2)
XM_011521044.1:c.501+98_501+100del (GPC6)	XP_011519346.1:n.501+98_501+100del
NM_005708.4:c.711+98_711+100del (GPC6)	NP_005699.1:n.711+98_711+100del
XM_011521044.2:c.501+98_501+100del (GPC6)	XP_011519346.1:n.501+98_501+100del
XM_017020298.1:c.501+98_501+100del (GPC6)	XP_016875787.1:n.501+98_501+100del
XM_017020299.2:c.501+98_501+100del (GPC6)	XP_016875788.1:n.501+98_501+100del
XM_017020300.1:c.501+98_501+100del (GPC6)	XP_016875789.1:n.501+98_501+100del
XM_017020301.1:c.345+98_345+100del (GPC6)	XP_016875790.1:n.345+98_345+100del
NM_005708.5:c.711+98_711+100del (GPC6) MANE Select	NP_005699.1:n.711+98_711+100del