Canonical Allele Identifier: CA305500980

Gene: GCDH SYCE2

Linked Data

• ClinVar Variation Id: 1608341
• ClinVar RCV Id: RCV002147366
• dbSNP Id: rs745657713
• gnomAD v4: 19-12899449-CTG-C
• MyVariant Identifiers: chr19:g.13010264_13010265del (hg19) ; chr19:g.12899450_12899451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899451_12899452del , CM000681.2:g.12899451_12899452del	GRCh38
NC_000019.9:g.13010265_13010266del , CM000681.1:g.13010265_13010266del	GRCh37
NC_000019.8:g.12871265_12871266del	NCBI36
NG_009292.1:g.13292_13293del
NG_033049.1:g.24822_24823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-17_1244-16del (GCDH) MANE Select	ENSP00000222214.4:n.1244-17_1244-16del
ENST00000293695.8:c.613-66_613-65del (SYCE2) MANE Select	ENSP00000293695.6:n.613-66_613-65del
ENST00000222214.9:c.1244-17_1244-16del (GCDH)	ENSP00000222214.4:n.1244-17_1244-16del
ENST00000293695.7:c.613-66_613-65del (SYCE2)	ENSP00000293695.6:n.613-66_613-65del
ENST00000585420.5:n.1574-17_1574-16del (GCDH)
ENST00000590530.5:c.*684-17_*684-16del (GCDH)	ENSP00000468452.1:n.*684-17_*684-16del
ENST00000591043.1:n.1554-17_1554-16del (GCDH)
ENST00000591050.1:c.210+1588_210+1589del (GCDH)
ENST00000591470.5:c.1244-17_1244-16del (GCDH)	ENSP00000466845.1:n.1244-17_1244-16del
ENST00000592819.1:c.186-66_186-65del (SYCE2)
NM_000159.3:c.1244-17_1244-16del (GCDH)	NP_000150.1:n.1244-17_1244-16del
NM_001105578.1:c.613-66_613-65del (SYCE2)	NP_001099048.1:n.613-66_613-65del
NM_013976.3:c.1244-249_1244-248del (GCDH)	NP_039663.1:n.1244-249_1244-248del
NR_102316.1:n.1407-17_1407-16del (GCDH)
NR_102317.1:n.1625-17_1625-16del (GCDH)
XM_005259848.3:c.*23-66_*23-65del (SYCE2)	XP_005259905.1:n.*23-66_*23-65del
XM_006722721.2:c.1244-783_1244-782del (GCDH)	XP_006722784.1:n.1244-783_1244-782del
XM_011527882.1:c.610-66_610-65del (SYCE2)	XP_011526184.1:n.610-66_610-65del
XM_011527883.1:c.*23-66_*23-65del (SYCE2)	XP_011526185.1:n.*23-66_*23-65del
XM_011527899.1:c.1243+1588_1243+1589del (GCDH)	XP_011526201.1:n.1243+1588_1243+1589del
XM_011527900.1:c.1244-783_1244-782del (GCDH)	XP_011526202.1:n.1244-783_1244-782del
XM_005259848.4:c.*23-66_*23-65del (SYCE2)	XP_005259905.1:n.*23-66_*23-65del
XM_011527882.2:c.610-66_610-65del (SYCE2)	XP_011526184.1:n.610-66_610-65del
XM_011527883.2:c.*23-66_*23-65del (SYCE2)	XP_011526185.1:n.*23-66_*23-65del
XM_011527899.2:c.1243+1588_1243+1589del (GCDH)	XP_011526201.1:n.1243+1588_1243+1589del
XM_011527900.2:c.1244-783_1244-782del (GCDH)	XP_011526202.1:n.1244-783_1244-782del
XM_017026580.1:c.1244-783_1244-782del (GCDH)	XP_016882069.1:n.1244-783_1244-782del
NM_000159.4:c.1244-17_1244-16del (GCDH) MANE Select	NP_000150.1:n.1244-17_1244-16del
NM_001105578.2:c.613-66_613-65del (SYCE2) MANE Select	NP_001099048.1:n.613-66_613-65del
NM_013976.4:c.1244-249_1244-248del (GCDH)	NP_039663.1:n.1244-249_1244-248del
NM_013976.5:c.1244-249_1244-248del (GCDH)	NP_039663.1:n.1244-249_1244-248del