Canonical Allele Identifier: CA631853001

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs1351388927
• gnomAD v2: 19-13010139-AGTCTC-A
• MyVariant Identifiers: chr19:g.13010140_13010144del (hg19) ; chr19:g.12899326_12899330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899326_12899330del , CM000681.2:g.12899326_12899330del	GRCh38
NC_000019.9:g.13010140_13010144del , CM000681.1:g.13010140_13010144del	GRCh37
NC_000019.8:g.12871140_12871144del	NCBI36
NG_009292.1:g.13167_13171del
NG_033049.1:g.24943_24947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-142_1244-138del (GCDH) MANE Select	ENSP00000222214.4:n.1244-142_1244-138del
ENST00000293695.8:c.*11_*15del (SYCE2) MANE Select	ENSP00000293695.6:n.*11_*15del
ENST00000222214.9:c.1244-142_1244-138del (GCDH)	ENSP00000222214.4:n.1244-142_1244-138del
ENST00000293695.7:c.*11_*15del (SYCE2)	ENSP00000293695.6:n.*11_*15del
ENST00000585420.5:n.1574-142_1574-138del (GCDH)
ENST00000590530.5:c.*684-142_*684-138del (GCDH)	ENSP00000468452.1:n.*684-142_*684-138del
ENST00000591043.1:n.1554-142_1554-138del (GCDH)
ENST00000591050.1:c.210+1463_210+1467del (GCDH)
ENST00000591470.5:c.1244-142_1244-138del (GCDH)	ENSP00000466845.1:n.1244-142_1244-138del
ENST00000592819.1:c.241_245del (SYCE2)
NM_000159.3:c.1244-142_1244-138del (GCDH)	NP_000150.1:n.1244-142_1244-138del
NM_001105578.1:c.*11_*15del (SYCE2)	NP_001099048.1:n.*11_*15del
NM_013976.3:c.1244-374_1244-370del (GCDH)	NP_039663.1:n.1244-374_1244-370del
NR_102316.1:n.1407-142_1407-138del (GCDH)
NR_102317.1:n.1625-142_1625-138del (GCDH)
XM_005259848.3:c.*78_*82del (SYCE2)	XP_005259905.1:n.*78_*82del
XM_006722721.2:c.1244-908_1244-904del (GCDH)	XP_006722784.1:n.1244-908_1244-904del
XM_011527882.1:c.*11_*15del (SYCE2)	XP_011526184.1:n.*11_*15del
XM_011527883.1:c.*78_*82del (SYCE2)	XP_011526185.1:n.*78_*82del
XM_011527899.1:c.1243+1463_1243+1467del (GCDH)	XP_011526201.1:n.1243+1463_1243+1467del
XM_011527900.1:c.1244-908_1244-904del (GCDH)	XP_011526202.1:n.1244-908_1244-904del
XM_005259848.4:c.*78_*82del (SYCE2)	XP_005259905.1:n.*78_*82del
XM_011527882.2:c.*11_*15del (SYCE2)	XP_011526184.1:n.*11_*15del
XM_011527883.2:c.*78_*82del (SYCE2)	XP_011526185.1:n.*78_*82del
XM_011527899.2:c.1243+1463_1243+1467del (GCDH)	XP_011526201.1:n.1243+1463_1243+1467del
XM_011527900.2:c.1244-908_1244-904del (GCDH)	XP_011526202.1:n.1244-908_1244-904del
XM_017026580.1:c.1244-908_1244-904del (GCDH)	XP_016882069.1:n.1244-908_1244-904del
NM_000159.4:c.1244-142_1244-138del (GCDH) MANE Select	NP_000150.1:n.1244-142_1244-138del
NM_001105578.2:c.*11_*15del (SYCE2) MANE Select	NP_001099048.1:n.*11_*15del
NM_013976.4:c.1244-374_1244-370del (GCDH)	NP_039663.1:n.1244-374_1244-370del
NM_013976.5:c.1244-374_1244-370del (GCDH)	NP_039663.1:n.1244-374_1244-370del