Canonical Allele Identifier: CA9234625

Gene: GCDH

Linked Data

• ClinVar Variation Id: 370106
• ClinVar RCV Id: RCV000410057 ; RCV001008118
• dbSNP Id: rs754002357
• ExAC: 19:13008600 TG / T
• gnomAD v2: 19-13008600-TG-T
• gnomAD v3: 19-12897786-TG-T
• gnomAD v4: 19-12897786-TG-T
• COSMIC: COSM2816924 ; COSM2816925 ; COSM4336443
• MyVariant Identifiers: chr19:g.13008607del (hg19) ; chr19:g.13008601del (hg19) ; chr19:g.12897793del (hg38) ; chr19:g.12897787del (hg38)
• PubMed: PMID:8900228 ; PMID:10960496

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897793del , CM000681.2:g.12897793del	GRCh38
NC_000019.9:g.13008607del , CM000681.1:g.13008607del	GRCh37
NC_000019.8:g.12869607del	NCBI36
NG_009292.1:g.11634del
NG_033049.1:g.26486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1173del MANE Select	ENSP00000222214.4:p.Asn392MetfsTer9
ENST00000222214.9:c.1173del	ENSP00000222214.4:p.Asn392MetfsTer9
ENST00000585420.5:n.1503del
ENST00000590472.5:c.217del
ENST00000590530.5:c.*613del	ENSP00000468452.1:n.*613del
ENST00000591043.1:n.1483del
ENST00000591050.1:c.140del
ENST00000591470.5:c.1173del	ENSP00000466845.1:p.Asn392MetfsTer9
NM_000159.3:c.1173del	NP_000150.1:p.Asn392MetfsTer9
NM_013976.3:c.1173del	NP_039663.1:p.Asn392MetfsTer9
NR_102316.1:n.1336del
NR_102317.1:n.1554del
XM_006722721.2:c.1173del	XP_006722784.1:p.Asn392MetfsTer9
XM_011527899.1:c.1173del	XP_011526201.1:p.Asn392MetfsTer9
XM_011527900.1:c.1173del	XP_011526202.1:p.Asn392MetfsTer9
XM_011527899.2:c.1173del	XP_011526201.1:p.Asn392MetfsTer9
XM_011527900.2:c.1173del	XP_011526202.1:p.Asn392MetfsTer9
XM_017026580.1:c.1173del	XP_016882069.1:p.Asn392MetfsTer9
NM_000159.4:c.1173del MANE Select	NP_000150.1:p.Asn392MetfsTer9
NM_013976.4:c.1173del	NP_039663.1:p.Asn392MetfsTer9
NM_013976.5:c.1173del	NP_039663.1:p.Asn392MetfsTer9