Canonical Allele Identifier: CA2573156004

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1381101
• ClinVar RCV Id: RCV001895197
• dbSNP Id: rs2145950918

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896230_12896231del , CM000681.2:g.12896230_12896231del	GRCh38
NC_000019.9:g.13007044_13007045del , CM000681.1:g.13007044_13007045del	GRCh37
NC_000019.8:g.12868044_12868045del	NCBI36
NG_009292.1:g.10071_10072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.661_662del MANE Select	ENSP00000222214.4:p.Leu221ValfsTer8
ENST00000222214.9:c.661_662del	ENSP00000222214.4:p.Leu221ValfsTer8
ENST00000421816.6:n.639_640del
ENST00000585420.5:n.1001-10_1001-9del
ENST00000590530.5:c.*101_*102del	ENSP00000468452.1:n.*101_*102del
ENST00000591043.1:n.697_698del
ENST00000591470.5:c.661_662del	ENSP00000466845.1:p.Leu221ValfsTer8
NM_000159.3:c.661_662del	NP_000150.1:p.Leu221ValfsTer8
NM_013976.3:c.661_662del	NP_039663.1:p.Leu221ValfsTer8
NR_102316.1:n.824_825del
NR_102317.1:n.1052-10_1052-9del
XM_006722721.2:c.661_662del	XP_006722784.1:p.Leu221ValfsTer8
XM_011527899.1:c.661_662del	XP_011526201.1:p.Leu221ValfsTer8
XM_011527900.1:c.661_662del	XP_011526202.1:p.Leu221ValfsTer8
XM_011527899.2:c.661_662del	XP_011526201.1:p.Leu221ValfsTer8
XM_011527900.2:c.661_662del	XP_011526202.1:p.Leu221ValfsTer8
XM_017026580.1:c.661_662del	XP_016882069.1:p.Leu221ValfsTer8
NM_000159.4:c.661_662del MANE Select	NP_000150.1:p.Leu221ValfsTer8
NM_013976.4:c.661_662del	NP_039663.1:p.Leu221ValfsTer8
NM_013976.5:c.661_662del	NP_039663.1:p.Leu221ValfsTer8