Canonical Allele Identifier: CA2573156007

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1361482
• ClinVar RCV Id: RCV001907613
• dbSNP Id: rs2145954876

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897736del , CM000681.2:g.12897736del	GRCh38
NC_000019.9:g.13008550del , CM000681.1:g.13008550del	GRCh37
NC_000019.8:g.12869550del	NCBI36
NG_009292.1:g.11577del
NG_033049.1:g.26538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1116del MANE Select	ENSP00000222214.4:p.Asn373IlefsTer28
ENST00000222214.9:c.1116del	ENSP00000222214.4:p.Asn373IlefsTer28
ENST00000585420.5:n.1446del
ENST00000590472.5:c.160del
ENST00000590530.5:c.*556del	ENSP00000468452.1:n.*556del
ENST00000591043.1:n.1426del
ENST00000591050.1:c.83del
ENST00000591470.5:c.1116del	ENSP00000466845.1:p.Asn373IlefsTer28
NM_000159.3:c.1116del	NP_000150.1:p.Asn373IlefsTer28
NM_013976.3:c.1116del	NP_039663.1:p.Asn373IlefsTer28
NR_102316.1:n.1279del
NR_102317.1:n.1497del
XM_006722721.2:c.1116del	XP_006722784.1:p.Asn373IlefsTer28
XM_011527899.1:c.1116del	XP_011526201.1:p.Asn373IlefsTer28
XM_011527900.1:c.1116del	XP_011526202.1:p.Asn373IlefsTer28
XM_011527899.2:c.1116del	XP_011526201.1:p.Asn373IlefsTer28
XM_011527900.2:c.1116del	XP_011526202.1:p.Asn373IlefsTer28
XM_017026580.1:c.1116del	XP_016882069.1:p.Asn373IlefsTer28
NM_000159.4:c.1116del MANE Select	NP_000150.1:p.Asn373IlefsTer28
NM_013976.4:c.1116del	NP_039663.1:p.Asn373IlefsTer28
NM_013976.5:c.1116del	NP_039663.1:p.Asn373IlefsTer28