Canonical Allele Identifier: CA2582773644

Gene: GCDH SYCE2

Linked Data

• gnomAD v4: 19-12899112-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899117del , CM000681.2:g.12899117del	GRCh38
NC_000019.9:g.13009931del , CM000681.1:g.13009931del	GRCh37
NC_000019.8:g.12870931del	NCBI36
NG_009292.1:g.12958del
NG_033049.1:g.25160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-351del (GCDH) MANE Select	ENSP00000222214.4:n.1244-351del
ENST00000293695.8:c.*228del (SYCE2) MANE Select	ENSP00000293695.6:n.*228del
ENST00000222214.9:c.1244-351del (GCDH)	ENSP00000222214.4:n.1244-351del
ENST00000293695.7:c.*228del (SYCE2)	ENSP00000293695.6:n.*228del
ENST00000585420.5:n.1574-351del (GCDH)
ENST00000590530.5:c.*684-351del (GCDH)	ENSP00000468452.1:n.*684-351del
ENST00000591043.1:n.1554-351del (GCDH)
ENST00000591050.1:c.210+1254del (GCDH)
ENST00000591470.5:c.1244-351del (GCDH)	ENSP00000466845.1:n.1244-351del
ENST00000592819.1:c.458del (SYCE2)
NM_000159.3:c.1244-351del (GCDH)	NP_000150.1:n.1244-351del
NM_001105578.1:c.*228del (SYCE2)	NP_001099048.1:n.*228del
NM_013976.3:c.1244-583del (GCDH)	NP_039663.1:n.1244-583del
NR_102316.1:n.1407-351del (GCDH)
NR_102317.1:n.1625-351del (GCDH)
XM_006722721.2:c.1244-1117del (GCDH)	XP_006722784.1:n.1244-1117del
XM_011527882.1:c.*228del (SYCE2)	XP_011526184.1:n.*228del
XM_011527883.1:c.*295del (SYCE2)	XP_011526185.1:n.*295del
XM_011527899.1:c.1243+1254del (GCDH)	XP_011526201.1:n.1243+1254del
XM_011527900.1:c.1244-1117del (GCDH)	XP_011526202.1:n.1244-1117del
XM_005259848.4:c.*295del (SYCE2)	XP_005259905.1:n.*295del
XM_011527882.2:c.*228del (SYCE2)	XP_011526184.1:n.*228del
XM_011527883.2:c.*295del (SYCE2)	XP_011526185.1:n.*295del
XM_011527899.2:c.1243+1254del (GCDH)	XP_011526201.1:n.1243+1254del
XM_011527900.2:c.1244-1117del (GCDH)	XP_011526202.1:n.1244-1117del
XM_017026580.1:c.1244-1117del (GCDH)	XP_016882069.1:n.1244-1117del
NM_000159.4:c.1244-351del (GCDH) MANE Select	NP_000150.1:n.1244-351del
NM_001105578.2:c.*228del (SYCE2) MANE Select	NP_001099048.1:n.*228del
NM_013976.4:c.1244-583del (GCDH)	NP_039663.1:n.1244-583del
NM_013976.5:c.1244-583del (GCDH)	NP_039663.1:n.1244-583del