Canonical Allele Identifier: CA2582773649

Gene: GCDH SYCE2

Linked Data

• gnomAD v4: 19-12899117-GTGGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899118_12899123del , CM000681.2:g.12899118_12899123del	GRCh38
NC_000019.9:g.13009932_13009937del , CM000681.1:g.13009932_13009937del	GRCh37
NC_000019.8:g.12870932_12870937del	NCBI36
NG_009292.1:g.12959_12964del
NG_033049.1:g.25150_25155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-350_1244-345del (GCDH) MANE Select	ENSP00000222214.4:n.1244-350_1244-345del
ENST00000293695.8:c.*218_*223del (SYCE2) MANE Select	ENSP00000293695.6:n.*218_*223del
ENST00000222214.9:c.1244-350_1244-345del (GCDH)	ENSP00000222214.4:n.1244-350_1244-345del
ENST00000293695.7:c.*218_*223del (SYCE2)	ENSP00000293695.6:n.*218_*223del
ENST00000585420.5:n.1574-350_1574-345del (GCDH)
ENST00000590530.5:c.*684-350_*684-345del (GCDH)	ENSP00000468452.1:n.*684-350_*684-345del
ENST00000591043.1:n.1554-350_1554-345del (GCDH)
ENST00000591050.1:c.210+1255_210+1260del (GCDH)
ENST00000591470.5:c.1244-350_1244-345del (GCDH)	ENSP00000466845.1:n.1244-350_1244-345del
ENST00000592819.1:c.448_453del (SYCE2)
NM_000159.3:c.1244-350_1244-345del (GCDH)	NP_000150.1:n.1244-350_1244-345del
NM_001105578.1:c.*218_*223del (SYCE2)	NP_001099048.1:n.*218_*223del
NM_013976.3:c.1244-582_1244-577del (GCDH)	NP_039663.1:n.1244-582_1244-577del
NR_102316.1:n.1407-350_1407-345del (GCDH)
NR_102317.1:n.1625-350_1625-345del (GCDH)
XM_006722721.2:c.1244-1116_1244-1111del (GCDH)	XP_006722784.1:n.1244-1116_1244-1111del
XM_011527882.1:c.*218_*223del (SYCE2)	XP_011526184.1:n.*218_*223del
XM_011527883.1:c.*285_*290del (SYCE2)	XP_011526185.1:n.*285_*290del
XM_011527899.1:c.1243+1255_1243+1260del (GCDH)	XP_011526201.1:n.1243+1255_1243+1260del
XM_011527900.1:c.1244-1116_1244-1111del (GCDH)	XP_011526202.1:n.1244-1116_1244-1111del
XM_005259848.4:c.*285_*290del (SYCE2)	XP_005259905.1:n.*285_*290del
XM_011527882.2:c.*218_*223del (SYCE2)	XP_011526184.1:n.*218_*223del
XM_011527883.2:c.*285_*290del (SYCE2)	XP_011526185.1:n.*285_*290del
XM_011527899.2:c.1243+1255_1243+1260del (GCDH)	XP_011526201.1:n.1243+1255_1243+1260del
XM_011527900.2:c.1244-1116_1244-1111del (GCDH)	XP_011526202.1:n.1244-1116_1244-1111del
XM_017026580.1:c.1244-1116_1244-1111del (GCDH)	XP_016882069.1:n.1244-1116_1244-1111del
NM_000159.4:c.1244-350_1244-345del (GCDH) MANE Select	NP_000150.1:n.1244-350_1244-345del
NM_001105578.2:c.*218_*223del (SYCE2) MANE Select	NP_001099048.1:n.*218_*223del
NM_013976.4:c.1244-582_1244-577del (GCDH)	NP_039663.1:n.1244-582_1244-577del
NM_013976.5:c.1244-582_1244-577del (GCDH)	NP_039663.1:n.1244-582_1244-577del