Canonical Allele Identifier: CA2580096535

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1724788
• ClinVar RCV Id: RCV002310056

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896927_12896928del , CM000681.2:g.12896927_12896928del	GRCh38
NC_000019.9:g.13007741_13007742del , CM000681.1:g.13007741_13007742del	GRCh37
NC_000019.8:g.12868741_12868742del	NCBI36
NG_009292.1:g.10768_10769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.870_871del MANE Select	ENSP00000222214.4:p.Asn291GlnfsTer?
ENST00000222214.9:c.870_871del	ENSP00000222214.4:p.Asn291GlnfsTer?
ENST00000421816.6:n.848_849del
ENST00000585420.5:n.1200_1201del
ENST00000590530.5:c.*310_*311del	ENSP00000468452.1:n.*310_*311del
ENST00000591043.1:n.906_907del
ENST00000591470.5:c.870_871del	ENSP00000466845.1:p.Asn291GlnfsTer?
NM_000159.3:c.870_871del	NP_000150.1:p.Asn291GlnfsTer?
NM_013976.3:c.870_871del	NP_039663.1:p.Asn291GlnfsTer?
NR_102316.1:n.1033_1034del
NR_102317.1:n.1251_1252del
XM_006722721.2:c.870_871del	XP_006722784.1:p.Asn291GlnfsTer?
XM_011527899.1:c.870_871del	XP_011526201.1:p.Asn291GlnfsTer?
XM_011527900.1:c.870_871del	XP_011526202.1:p.Asn291GlnfsTer?
XM_011527899.2:c.870_871del	XP_011526201.1:p.Asn291GlnfsTer?
XM_011527900.2:c.870_871del	XP_011526202.1:p.Asn291GlnfsTer?
XM_017026580.1:c.870_871del	XP_016882069.1:p.Asn291GlnfsTer?
NM_000159.4:c.870_871del MANE Select	NP_000150.1:p.Asn291GlnfsTer?
NM_013976.4:c.870_871del	NP_039663.1:p.Asn291GlnfsTer?
NM_013976.5:c.870_871del	NP_039663.1:p.Asn291GlnfsTer?