Canonical Allele Identifier: CA2581954210
Gene: GCDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891536_12891544del , CM000681.2:g.12891536_12891544del GRCh38
NC_000019.9:g.13002350_13002358del , CM000681.1:g.13002350_13002358del GRCh37
NC_000019.8:g.12863350_12863358del NCBI36
NG_009292.1:g.5377_5385del
NG_013087.1:g.661_669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.127+14_127+22del MANE Select ENSP00000222214.4:n.127+14_127+22del
ENST00000222214.9:c.127+14_127+22del ENSP00000222214.4:n.127+14_127+22del
ENST00000421816.6:n.168+141_168+149del
ENST00000585420.5:n.198_206del
ENST00000585760.5:n.163+14_163+22del
ENST00000587072.1:c.127+14_127+22del ENSP00000468584.1:n.127+14_127+22del
ENST00000587832.5:n.184+14_184+22del
ENST00000588905.5:c.91+141_91+149del ENSP00000465770.1:n.91+141_91+149del
ENST00000589039.5:c.127+14_127+22del ENSP00000465618.1:n.127+14_127+22del
ENST00000590445.5:c.141_149del ENSP00000468125.1:p.Trp47_Arg50delinsCys
ENST00000590530.5:c.127+14_127+22del ENSP00000468452.1:n.127+14_127+22del
ENST00000590627.5:n.198_206del
ENST00000591043.1:n.163+14_163+22del
ENST00000591470.5:c.127+14_127+22del ENSP00000466845.1:n.127+14_127+22del
NM_000159.3:c.127+14_127+22del NP_000150.1:n.127+14_127+22del
NM_013976.3:c.127+14_127+22del NP_039663.1:n.127+14_127+22del
NR_102316.1:n.235+14_235+22del
NR_102317.1:n.249_257del
XM_006722721.2:c.127+14_127+22del XP_006722784.1:n.127+14_127+22del
XM_011527899.1:c.127+14_127+22del XP_011526201.1:n.127+14_127+22del
XM_011527900.1:c.127+14_127+22del XP_011526202.1:n.127+14_127+22del
XM_011527899.2:c.127+14_127+22del XP_011526201.1:n.127+14_127+22del
XM_011527900.2:c.127+14_127+22del XP_011526202.1:n.127+14_127+22del
XM_017026580.1:c.127+14_127+22del XP_016882069.1:n.127+14_127+22del
NM_000159.4:c.127+14_127+22del MANE Select NP_000150.1:n.127+14_127+22del
NM_013976.4:c.127+14_127+22del NP_039663.1:n.127+14_127+22del
NM_013976.5:c.127+14_127+22del NP_039663.1:n.127+14_127+22del