Canonical Allele Identifier: CA2839749047

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896387del , CM000681.2:g.12896387del	GRCh38
NC_000019.9:g.13007201del , CM000681.1:g.13007201del	GRCh37
NC_000019.8:g.12868201del	NCBI36
NG_009292.1:g.10228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.818del MANE Select	ENSP00000222214.4:p.Glu273GlyfsTer18
ENST00000222214.9:c.818del	ENSP00000222214.4:p.Glu273GlyfsTer18
ENST00000421816.6:n.796del
ENST00000585420.5:n.1148del
ENST00000590530.5:c.*258del	ENSP00000468452.1:n.*258del
ENST00000591043.1:n.854del
ENST00000591470.5:c.818del	ENSP00000466845.1:p.Glu273GlyfsTer18
NM_000159.3:c.818del	NP_000150.1:p.Glu273GlyfsTer18
NM_013976.3:c.818del	NP_039663.1:p.Glu273GlyfsTer18
NR_102316.1:n.981del
NR_102317.1:n.1199del
XM_006722721.2:c.818del	XP_006722784.1:p.Glu273GlyfsTer18
XM_011527899.1:c.818del	XP_011526201.1:p.Glu273GlyfsTer18
XM_011527900.1:c.818del	XP_011526202.1:p.Glu273GlyfsTer18
XM_011527899.2:c.818del	XP_011526201.1:p.Glu273GlyfsTer18
XM_011527900.2:c.818del	XP_011526202.1:p.Glu273GlyfsTer18
XM_017026580.1:c.818del	XP_016882069.1:p.Glu273GlyfsTer18
NM_000159.4:c.818del MANE Select	NP_000150.1:p.Glu273GlyfsTer18
NM_013976.4:c.818del	NP_039663.1:p.Glu273GlyfsTer18
NM_013976.5:c.818del	NP_039663.1:p.Glu273GlyfsTer18