Canonical Allele Identifier: CA2582772068

Gene: GCDH

Linked Data

• gnomAD v4: 19-12896385-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896389_12896391del , CM000681.2:g.12896389_12896391del	GRCh38
NC_000019.9:g.13007203_13007205del , CM000681.1:g.13007203_13007205del	GRCh37
NC_000019.8:g.12868203_12868205del	NCBI36
NG_009292.1:g.10230_10232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.820_822del MANE Select	ENSP00000222214.4:p.Glu274del
ENST00000222214.9:c.820_822del	ENSP00000222214.4:p.Glu274del
ENST00000421816.6:n.798_800del
ENST00000585420.5:n.1150_1152del
ENST00000590530.5:c.*260_*262del	ENSP00000468452.1:n.*260_*262del
ENST00000591043.1:n.856_858del
ENST00000591470.5:c.820_822del	ENSP00000466845.1:p.Glu274del
NM_000159.3:c.820_822del	NP_000150.1:p.Glu274del
NM_013976.3:c.820_822del	NP_039663.1:p.Glu274del
NR_102316.1:n.983_985del
NR_102317.1:n.1201_1203del
XM_006722721.2:c.820_822del	XP_006722784.1:p.Glu274del
XM_011527899.1:c.820_822del	XP_011526201.1:p.Glu274del
XM_011527900.1:c.820_822del	XP_011526202.1:p.Glu274del
XM_011527899.2:c.820_822del	XP_011526201.1:p.Glu274del
XM_011527900.2:c.820_822del	XP_011526202.1:p.Glu274del
XM_017026580.1:c.820_822del	XP_016882069.1:p.Glu274del
NM_000159.4:c.820_822del MANE Select	NP_000150.1:p.Glu274del
NM_013976.4:c.820_822del	NP_039663.1:p.Glu274del
NM_013976.5:c.820_822del	NP_039663.1:p.Glu274del