Canonical Allele Identifier: CA632121780

Gene: GCDH

Linked Data

• dbSNP Id: rs1568429430
• gnomAD v2: 19-13008653-CTGG-C
• gnomAD v4: 19-12897839-CTGG-C
• MyVariant Identifiers: chr19:g.13008654_13008656del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897840_12897842del , CM000681.2:g.12897840_12897842del	GRCh38
NC_000019.9:g.13008654_13008656del , CM000681.1:g.13008654_13008656del	GRCh37
NC_000019.8:g.12869654_12869656del	NCBI36
NG_009292.1:g.11681_11683del
NG_033049.1:g.26431_26433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1220_1222del MANE Select	ENSP00000222214.4:p.Leu407_Glu408delinsGln
ENST00000222214.9:c.1220_1222del	ENSP00000222214.4:p.Leu407_Glu408delinsGln
ENST00000585420.5:n.1550_1552del
ENST00000590472.5:c.264_266del
ENST00000590530.5:c.*660_*662del	ENSP00000468452.1:n.*660_*662del
ENST00000591043.1:n.1530_1532del
ENST00000591050.1:c.187_189del
ENST00000591470.5:c.1220_1222del	ENSP00000466845.1:p.Leu407_Glu408delinsGln
NM_000159.3:c.1220_1222del	NP_000150.1:p.Leu407_Glu408delinsGln
NM_013976.3:c.1220_1222del	NP_039663.1:p.Leu407_Glu408delinsGln
NR_102316.1:n.1383_1385del
NR_102317.1:n.1601_1603del
XM_006722721.2:c.1220_1222del	XP_006722784.1:p.Leu407_Glu408delinsGln
XM_011527899.1:c.1220_1222del	XP_011526201.1:p.Leu407_Glu408delinsGln
XM_011527900.1:c.1220_1222del	XP_011526202.1:p.Leu407_Glu408delinsGln
XM_011527899.2:c.1220_1222del	XP_011526201.1:p.Leu407_Glu408delinsGln
XM_011527900.2:c.1220_1222del	XP_011526202.1:p.Leu407_Glu408delinsGln
XM_017026580.1:c.1220_1222del	XP_016882069.1:p.Leu407_Glu408delinsGln
NM_000159.4:c.1220_1222del MANE Select	NP_000150.1:p.Leu407_Glu408delinsGln
NM_013976.4:c.1220_1222del	NP_039663.1:p.Leu407_Glu408delinsGln
NM_013976.5:c.1220_1222del	NP_039663.1:p.Leu407_Glu408delinsGln