Canonical Allele Identifier: CA2580096508

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2016415
• ClinVar RCV Id: RCV002843888

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896010del , CM000681.2:g.12896010del	GRCh38
NC_000019.9:g.13006824del , CM000681.1:g.13006824del	GRCh37
NC_000019.8:g.12867824del	NCBI36
NG_009292.1:g.9851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.524del MANE Select	ENSP00000222214.4:p.Gly175AlafsTer?
ENST00000222214.9:c.524del	ENSP00000222214.4:p.Gly175AlafsTer?
ENST00000421816.6:n.502del
ENST00000585420.5:n.889del
ENST00000588905.5:c.488del	ENSP00000465770.1:p.Gly163AlafsTer?
ENST00000590530.5:c.579del	ENSP00000468452.1:p.Leu194CysfsTer?
ENST00000591043.1:n.560del
ENST00000591470.5:c.524del	ENSP00000466845.1:p.Gly175AlafsTer?
NM_000159.3:c.524del	NP_000150.1:p.Gly175AlafsTer?
NM_013976.3:c.524del	NP_039663.1:p.Gly175AlafsTer?
NR_102316.1:n.687del
NR_102317.1:n.940del
XM_006722721.2:c.524del	XP_006722784.1:p.Gly175AlafsTer?
XM_011527899.1:c.524del	XP_011526201.1:p.Gly175AlafsTer?
XM_011527900.1:c.524del	XP_011526202.1:p.Gly175AlafsTer?
XM_011527899.2:c.524del	XP_011526201.1:p.Gly175AlafsTer?
XM_011527900.2:c.524del	XP_011526202.1:p.Gly175AlafsTer?
XM_017026580.1:c.524del	XP_016882069.1:p.Gly175AlafsTer?
NM_000159.4:c.524del MANE Select	NP_000150.1:p.Gly175AlafsTer?
NM_013976.4:c.524del	NP_039663.1:p.Gly175AlafsTer?
NM_013976.5:c.524del	NP_039663.1:p.Gly175AlafsTer?