Canonical Allele Identifier: CA993678634

Gene: GCDH

Linked Data

• dbSNP Id: rs1970557934
• gnomAD v3: 19-12891591-CTG-C
• gnomAD v4: 19-12891591-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891593_12891594del , CM000681.2:g.12891593_12891594del	GRCh38
NC_000019.9:g.13002407_13002408del , CM000681.1:g.13002407_13002408del	GRCh37
NC_000019.8:g.12863407_12863408del	NCBI36
NG_009292.1:g.5434_5435del
NG_013087.1:g.611_612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+71_127+72del MANE Select	ENSP00000222214.4:n.127+71_127+72del
ENST00000222214.9:c.127+71_127+72del	ENSP00000222214.4:n.127+71_127+72del
ENST00000421816.6:n.168+198_168+199del
ENST00000585420.5:n.255_256del
ENST00000585760.5:n.163+71_163+72del
ENST00000587072.1:c.127+71_127+72del	ENSP00000468584.1:n.127+71_127+72del
ENST00000587832.5:n.184+71_184+72del
ENST00000588905.5:c.91+198_91+199del	ENSP00000465770.1:n.91+198_91+199del
ENST00000589039.5:c.127+71_127+72del	ENSP00000465618.1:n.127+71_127+72del
ENST00000590445.5:c.198_199del	ENSP00000468125.1:p.Ser67ProfsTer28
ENST00000590530.5:c.127+71_127+72del	ENSP00000468452.1:n.127+71_127+72del
ENST00000590627.5:n.255_256del
ENST00000591043.1:n.163+71_163+72del
ENST00000591470.5:c.127+71_127+72del	ENSP00000466845.1:n.127+71_127+72del
NM_000159.3:c.127+71_127+72del	NP_000150.1:n.127+71_127+72del
NM_013976.3:c.127+71_127+72del	NP_039663.1:n.127+71_127+72del
NR_102316.1:n.235+71_235+72del
NR_102317.1:n.306_307del
XM_006722721.2:c.127+71_127+72del	XP_006722784.1:n.127+71_127+72del
XM_011527899.1:c.127+71_127+72del	XP_011526201.1:n.127+71_127+72del
XM_011527900.1:c.127+71_127+72del	XP_011526202.1:n.127+71_127+72del
XM_011527899.2:c.127+71_127+72del	XP_011526201.1:n.127+71_127+72del
XM_011527900.2:c.127+71_127+72del	XP_011526202.1:n.127+71_127+72del
XM_017026580.1:c.127+71_127+72del	XP_016882069.1:n.127+71_127+72del
NM_000159.4:c.127+71_127+72del MANE Select	NP_000150.1:n.127+71_127+72del
NM_013976.4:c.127+71_127+72del	NP_039663.1:n.127+71_127+72del
NM_013976.5:c.127+71_127+72del	NP_039663.1:n.127+71_127+72del