Canonical Allele Identifier: CA632121724

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2705313
• ClinVar RCV Id: RCV003498855
• dbSNP Id: rs1436960118
• gnomAD v2: 19-13004439-ACAG-A
• gnomAD v4: 19-12893625-ACAG-A
• MyVariant Identifiers: chr19:g.13004440_13004442del (hg19) ; chr19:g.12893626_12893628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893627_12893629del , CM000681.2:g.12893627_12893629del	GRCh38
NC_000019.9:g.13004441_13004443del , CM000681.1:g.13004441_13004443del	GRCh37
NC_000019.8:g.12865441_12865443del	NCBI36
NG_009292.1:g.7468_7470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.479_481del MANE Select	ENSP00000222214.4:p.Gln160del
ENST00000222214.9:c.479_481del	ENSP00000222214.4:p.Gln160del
ENST00000421816.6:n.457_459del
ENST00000585420.5:n.844_846del
ENST00000587832.5:n.536_538del
ENST00000588905.5:c.443_445del	ENSP00000465770.1:p.Gln148del
ENST00000589039.5:c.416_418del	ENSP00000465618.1:p.Gln139del
ENST00000590530.5:c.534_536del	ENSP00000468452.1:p.Ala179del
ENST00000590627.5:n.844_846del
ENST00000591043.1:n.515_517del
ENST00000591470.5:c.479_481del	ENSP00000466845.1:p.Gln160del
NM_000159.3:c.479_481del	NP_000150.1:p.Gln160del
NM_013976.3:c.479_481del	NP_039663.1:p.Gln160del
NR_102316.1:n.642_644del
NR_102317.1:n.895_897del
XM_006722721.2:c.479_481del	XP_006722784.1:p.Gln160del
XM_011527899.1:c.479_481del	XP_011526201.1:p.Gln160del
XM_011527900.1:c.479_481del	XP_011526202.1:p.Gln160del
XM_011527899.2:c.479_481del	XP_011526201.1:p.Gln160del
XM_011527900.2:c.479_481del	XP_011526202.1:p.Gln160del
XM_017026580.1:c.479_481del	XP_016882069.1:p.Gln160del
NM_000159.4:c.479_481del MANE Select	NP_000150.1:p.Gln160del
NM_013976.4:c.479_481del	NP_039663.1:p.Gln160del
NM_013976.5:c.479_481del	NP_039663.1:p.Gln160del