Canonical Allele Identifier: CA305500969

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs1008684561
• gnomAD v4: 19-12899289-TCA-T
• MyVariant Identifiers: chr19:g.13010104_13010105del (hg19) ; chr19:g.12899290_12899291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899292_12899293del , CM000681.2:g.12899292_12899293del	GRCh38
NC_000019.9:g.13010106_13010107del , CM000681.1:g.13010106_13010107del	GRCh37
NC_000019.8:g.12871106_12871107del	NCBI36
NG_009292.1:g.13133_13134del
NG_033049.1:g.24982_24983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-176_1244-175del (GCDH) MANE Select	ENSP00000222214.4:n.1244-176_1244-175del
ENST00000293695.8:c.*50_*51del (SYCE2) MANE Select	ENSP00000293695.6:n.*50_*51del
ENST00000222214.9:c.1244-176_1244-175del (GCDH)	ENSP00000222214.4:n.1244-176_1244-175del
ENST00000293695.7:c.*50_*51del (SYCE2)	ENSP00000293695.6:n.*50_*51del
ENST00000585420.5:n.1574-176_1574-175del (GCDH)
ENST00000590530.5:c.*684-176_*684-175del (GCDH)	ENSP00000468452.1:n.*684-176_*684-175del
ENST00000591043.1:n.1554-176_1554-175del (GCDH)
ENST00000591050.1:c.210+1429_210+1430del (GCDH)
ENST00000591470.5:c.1244-176_1244-175del (GCDH)	ENSP00000466845.1:n.1244-176_1244-175del
ENST00000592819.1:c.280_281del (SYCE2)
NM_000159.3:c.1244-176_1244-175del (GCDH)	NP_000150.1:n.1244-176_1244-175del
NM_001105578.1:c.*50_*51del (SYCE2)	NP_001099048.1:n.*50_*51del
NM_013976.3:c.1244-408_1244-407del (GCDH)	NP_039663.1:n.1244-408_1244-407del
NR_102316.1:n.1407-176_1407-175del (GCDH)
NR_102317.1:n.1625-176_1625-175del (GCDH)
XM_006722721.2:c.1244-942_1244-941del (GCDH)	XP_006722784.1:n.1244-942_1244-941del
XM_011527882.1:c.*50_*51del (SYCE2)	XP_011526184.1:n.*50_*51del
XM_011527883.1:c.*117_*118del (SYCE2)	XP_011526185.1:n.*117_*118del
XM_011527899.1:c.1243+1429_1243+1430del (GCDH)	XP_011526201.1:n.1243+1429_1243+1430del
XM_011527900.1:c.1244-942_1244-941del (GCDH)	XP_011526202.1:n.1244-942_1244-941del
XM_005259848.4:c.*117_*118del (SYCE2)	XP_005259905.1:n.*117_*118del
XM_011527882.2:c.*50_*51del (SYCE2)	XP_011526184.1:n.*50_*51del
XM_011527883.2:c.*117_*118del (SYCE2)	XP_011526185.1:n.*117_*118del
XM_011527899.2:c.1243+1429_1243+1430del (GCDH)	XP_011526201.1:n.1243+1429_1243+1430del
XM_011527900.2:c.1244-942_1244-941del (GCDH)	XP_011526202.1:n.1244-942_1244-941del
XM_017026580.1:c.1244-942_1244-941del (GCDH)	XP_016882069.1:n.1244-942_1244-941del
NM_000159.4:c.1244-176_1244-175del (GCDH) MANE Select	NP_000150.1:n.1244-176_1244-175del
NM_001105578.2:c.*50_*51del (SYCE2) MANE Select	NP_001099048.1:n.*50_*51del
NM_013976.4:c.1244-408_1244-407del (GCDH)	NP_039663.1:n.1244-408_1244-407del
NM_013976.5:c.1244-408_1244-407del (GCDH)	NP_039663.1:n.1244-408_1244-407del