Canonical Allele Identifier: CA2582772065

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896338-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896341del , CM000681.2:g.12896341del	GRCh38
NC_000019.9:g.13007155del , CM000681.1:g.13007155del	GRCh37
NC_000019.8:g.12868155del	NCBI36
NG_009292.1:g.10182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.772del MANE Select	ENSP00000222214.4:p.Ala258ProfsTer6
ENST00000222214.9:c.772del	ENSP00000222214.4:p.Ala258ProfsTer6
ENST00000421816.6:n.750del
ENST00000585420.5:n.1102del
ENST00000590530.5:c.*212del	ENSP00000468452.1:n.*212del
ENST00000591043.1:n.808del
ENST00000591470.5:c.772del	ENSP00000466845.1:p.Ala258ProfsTer6
NM_000159.3:c.772del	NP_000150.1:p.Ala258ProfsTer6
NM_013976.3:c.772del	NP_039663.1:p.Ala258ProfsTer6
NR_102316.1:n.935del
NR_102317.1:n.1153del
XM_006722721.2:c.772del	XP_006722784.1:p.Ala258ProfsTer6
XM_011527899.1:c.772del	XP_011526201.1:p.Ala258ProfsTer6
XM_011527900.1:c.772del	XP_011526202.1:p.Ala258ProfsTer6
XM_011527899.2:c.772del	XP_011526201.1:p.Ala258ProfsTer6
XM_011527900.2:c.772del	XP_011526202.1:p.Ala258ProfsTer6
XM_017026580.1:c.772del	XP_016882069.1:p.Ala258ProfsTer6
NM_000159.4:c.772del MANE Select	NP_000150.1:p.Ala258ProfsTer6
NM_013976.4:c.772del	NP_039663.1:p.Ala258ProfsTer6
NM_013976.5:c.772del	NP_039663.1:p.Ala258ProfsTer6