Canonical Allele Identifier: CA2739276562

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2831178
• ClinVar RCV Id: RCV003604464

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897828_12898581del , CM000681.2:g.12897828_12898581del	GRCh38
NC_000019.9:g.13008642_13009395del , CM000681.1:g.13008642_13009395del	GRCh37
NC_000019.8:g.12869642_12870395del	NCBI36
NG_009292.1:g.11669_12422del
NG_033049.1:g.25695_26448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1208_1243+718del
ENST00000222214.9:c.1208_1243+718del
ENST00000585420.5:n.1538_1573+718del
ENST00000590530.5:c.*648_*683+718del
ENST00000591043.1:n.1518_1553+718del
ENST00000591050.1:c.175_210+718del
ENST00000591470.5:c.1208_1243+718del
NM_000159.3:c.1208_1243+718del
NM_013976.3:c.1208_1243+718del
NR_102316.1:n.1371_1406+718del
NR_102317.1:n.1589_1624+718del
XM_006722721.2:c.1208_1243+718del
XM_011527899.1:c.1208_1243+718del
XM_011527900.1:c.1208_1243+718del
XM_011527899.2:c.1208_1243+718del
XM_011527900.2:c.1208_1243+718del
XM_017026580.1:c.1208_1243+718del
NM_000159.4:c.1208_1243+718del
NM_013976.4:c.1208_1243+718del
NM_013976.5:c.1208_1243+718del