Canonical Allele Identifier: CA783407303

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs1195682553
• gnomAD v3: 19-12899114-G-GGGGTGGGGAGAACTTGCCAA
• gnomAD v4: 19-12899114-G-GGGGTGGGGAGAACTTGCCAA
• MyVariant Identifiers: chr19:g.13009928_13009929insGGGTGGGGAGAACTTGCCAA (hg19) ; chr19:g.12899114_12899115insGGGTGGGGAGAACTTGCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899125_12899144dup , CM000681.2:g.12899125_12899144dup	GRCh38
NC_000019.9:g.13009939_13009958dup , CM000681.1:g.13009939_13009958dup	GRCh37
NC_000019.8:g.12870939_12870958dup	NCBI36
NG_009292.1:g.12966_12985dup
NG_033049.1:g.25139_25158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-343_1244-324dup (GCDH) MANE Select	ENSP00000222214.4:n.1244-343_1244-324dup
ENST00000293695.8:c.*207_*226dup (SYCE2) MANE Select	ENSP00000293695.6:n.*207_*226dup
ENST00000222214.9:c.1244-343_1244-324dup (GCDH)	ENSP00000222214.4:n.1244-343_1244-324dup
ENST00000293695.7:c.*207_*226dup (SYCE2)	ENSP00000293695.6:n.*207_*226dup
ENST00000585420.5:n.1574-343_1574-324dup (GCDH)
ENST00000590530.5:c.*684-343_*684-324dup (GCDH)	ENSP00000468452.1:n.*684-343_*684-324dup
ENST00000591043.1:n.1554-343_1554-324dup (GCDH)
ENST00000591050.1:c.210+1262_210+1281dup (GCDH)
ENST00000591470.5:c.1244-343_1244-324dup (GCDH)	ENSP00000466845.1:n.1244-343_1244-324dup
ENST00000592819.1:c.437_456dup (SYCE2)
NM_000159.3:c.1244-343_1244-324dup (GCDH)	NP_000150.1:n.1244-343_1244-324dup
NM_001105578.1:c.*207_*226dup (SYCE2)	NP_001099048.1:n.*207_*226dup
NM_013976.3:c.1244-575_1244-556dup (GCDH)	NP_039663.1:n.1244-575_1244-556dup
NR_102316.1:n.1407-343_1407-324dup (GCDH)
NR_102317.1:n.1625-343_1625-324dup (GCDH)
XM_006722721.2:c.1244-1109_1244-1090dup (GCDH)	XP_006722784.1:n.1244-1109_1244-1090dup
XM_011527882.1:c.*207_*226dup (SYCE2)	XP_011526184.1:n.*207_*226dup
XM_011527883.1:c.*274_*293dup (SYCE2)	XP_011526185.1:n.*274_*293dup
XM_011527899.1:c.1243+1262_1243+1281dup (GCDH)	XP_011526201.1:n.1243+1262_1243+1281dup
XM_011527900.1:c.1244-1109_1244-1090dup (GCDH)	XP_011526202.1:n.1244-1109_1244-1090dup
XM_005259848.4:c.*274_*293dup (SYCE2)	XP_005259905.1:n.*274_*293dup
XM_011527882.2:c.*207_*226dup (SYCE2)	XP_011526184.1:n.*207_*226dup
XM_011527883.2:c.*274_*293dup (SYCE2)	XP_011526185.1:n.*274_*293dup
XM_011527899.2:c.1243+1262_1243+1281dup (GCDH)	XP_011526201.1:n.1243+1262_1243+1281dup
XM_011527900.2:c.1244-1109_1244-1090dup (GCDH)	XP_011526202.1:n.1244-1109_1244-1090dup
XM_017026580.1:c.1244-1109_1244-1090dup (GCDH)	XP_016882069.1:n.1244-1109_1244-1090dup
NM_000159.4:c.1244-343_1244-324dup (GCDH) MANE Select	NP_000150.1:n.1244-343_1244-324dup
NM_001105578.2:c.*207_*226dup (SYCE2) MANE Select	NP_001099048.1:n.*207_*226dup
NM_013976.4:c.1244-575_1244-556dup (GCDH)	NP_039663.1:n.1244-575_1244-556dup
NM_013976.5:c.1244-575_1244-556dup (GCDH)	NP_039663.1:n.1244-575_1244-556dup