Canonical Allele Identifier: CA2582772064

Gene: GCDH

Linked Data

• gnomAD v4: 19-12895995-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12895999_12896000dup , CM000681.2:g.12895999_12896000dup	GRCh38
NC_000019.9:g.13006813_13006814dup , CM000681.1:g.13006813_13006814dup	GRCh37
NC_000019.8:g.12867813_12867814dup	NCBI36
NG_009292.1:g.9840_9841dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.513_514dup MANE Select	ENSP00000222214.4:p.Glu172GlyfsTer?
ENST00000222214.9:c.513_514dup	ENSP00000222214.4:p.Glu172GlyfsTer?
ENST00000421816.6:n.491_492dup
ENST00000585420.5:n.878_879dup
ENST00000588905.5:c.477_478dup	ENSP00000465770.1:p.Glu160GlyfsTer?
ENST00000590530.5:c.568_569dup	ENSP00000468452.1:p.Ala191GlufsTer?
ENST00000591043.1:n.549_550dup
ENST00000591470.5:c.513_514dup	ENSP00000466845.1:p.Glu172GlyfsTer?
NM_000159.3:c.513_514dup	NP_000150.1:p.Glu172GlyfsTer?
NM_013976.3:c.513_514dup	NP_039663.1:p.Glu172GlyfsTer?
NR_102316.1:n.676_677dup
NR_102317.1:n.929_930dup
XM_006722721.2:c.513_514dup	XP_006722784.1:p.Glu172GlyfsTer?
XM_011527899.1:c.513_514dup	XP_011526201.1:p.Glu172GlyfsTer?
XM_011527900.1:c.513_514dup	XP_011526202.1:p.Glu172GlyfsTer?
XM_011527899.2:c.513_514dup	XP_011526201.1:p.Glu172GlyfsTer?
XM_011527900.2:c.513_514dup	XP_011526202.1:p.Glu172GlyfsTer?
XM_017026580.1:c.513_514dup	XP_016882069.1:p.Glu172GlyfsTer?
NM_000159.4:c.513_514dup MANE Select	NP_000150.1:p.Glu172GlyfsTer?
NM_013976.4:c.513_514dup	NP_039663.1:p.Glu172GlyfsTer?
NM_013976.5:c.513_514dup	NP_039663.1:p.Glu172GlyfsTer?