Canonical Allele Identifier: CA16041962
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 370485
ClinVar RCV Id: RCV000410524
dbSNP Id: rs1057516522

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891384_12891385del , CM000681.2:g.12891384_12891385del GRCh38
NC_000019.9:g.13002198_13002199del , CM000681.1:g.13002198_13002199del GRCh37
NC_000019.8:g.12863198_12863199del NCBI36
NG_009292.1:g.5225_5226del
NG_013087.1:g.820_821del

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.80_81del MANE Select ENSP00000222214.4:p.Ala27GlyfsTer15
ENST00000222214.9:c.80_81del ENSP00000222214.4:p.Ala27GlyfsTer15
ENST00000421816.6:n.157_158del
ENST00000585420.5:n.137_138del
ENST00000585760.5:n.116_117del
ENST00000587072.1:c.80_81del ENSP00000468584.1:p.Ala27GlyfsTer15
ENST00000587832.5:n.137_138del
ENST00000588905.5:c.80_81del ENSP00000465770.1:p.Ala27GlyfsTer10
ENST00000589039.5:c.80_81del ENSP00000465618.1:p.Ala27GlyfsTer15
ENST00000590445.5:c.80_81del ENSP00000468125.1:p.Ala27GlyfsTer15
ENST00000590530.5:c.80_81del ENSP00000468452.1:p.Ala27GlyfsTer15
ENST00000590627.5:n.137_138del
ENST00000591043.1:n.116_117del
ENST00000591470.5:c.80_81del ENSP00000466845.1:p.Ala27GlyfsTer15
NM_000159.3:c.80_81del NP_000150.1:p.Ala27GlyfsTer15
NM_013976.3:c.80_81del NP_039663.1:p.Ala27GlyfsTer15
NR_102316.1:n.188_189del
NR_102317.1:n.188_189del
XM_006722721.2:c.80_81del XP_006722784.1:p.Ala27GlyfsTer15
XM_011527899.1:c.80_81del XP_011526201.1:p.Ala27GlyfsTer15
XM_011527900.1:c.80_81del XP_011526202.1:p.Ala27GlyfsTer15
XM_011527899.2:c.80_81del XP_011526201.1:p.Ala27GlyfsTer15
XM_011527900.2:c.80_81del XP_011526202.1:p.Ala27GlyfsTer15
XM_017026580.1:c.80_81del XP_016882069.1:p.Ala27GlyfsTer15
NM_000159.4:c.80_81del MANE Select NP_000150.1:p.Ala27GlyfsTer15
NM_013976.4:c.80_81del NP_039663.1:p.Ala27GlyfsTer15
NM_013976.5:c.80_81del NP_039663.1:p.Ala27GlyfsTer15