Canonical Allele Identifier: CA2323620949
Gene: GCDH HGNC NCBI

Linked Data

dbSNP Id: rs1970556500

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891548_12891549del , CM000681.2:g.12891548_12891549del GRCh38
NC_000019.9:g.13002362_13002363del , CM000681.1:g.13002362_13002363del GRCh37
NC_000019.8:g.12863362_12863363del NCBI36
NG_009292.1:g.5389_5390del
NG_013087.1:g.659_660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.127+26_127+27del MANE Select ENSP00000222214.4:n.127+26_127+27del
ENST00000222214.9:c.127+26_127+27del ENSP00000222214.4:n.127+26_127+27del
ENST00000421816.6:n.168+153_168+154del
ENST00000585420.5:n.210_211del
ENST00000585760.5:n.163+26_163+27del
ENST00000587072.1:c.127+26_127+27del ENSP00000468584.1:n.127+26_127+27del
ENST00000587832.5:n.184+26_184+27del
ENST00000588905.5:c.91+153_91+154del ENSP00000465770.1:n.91+153_91+154del
ENST00000589039.5:c.127+26_127+27del ENSP00000465618.1:n.127+26_127+27del
ENST00000590445.5:c.153_154del ENSP00000468125.1:p.Ser52CysfsTer?
ENST00000590530.5:c.127+26_127+27del ENSP00000468452.1:n.127+26_127+27del
ENST00000590627.5:n.210_211del
ENST00000591043.1:n.163+26_163+27del
ENST00000591470.5:c.127+26_127+27del ENSP00000466845.1:n.127+26_127+27del
NM_000159.3:c.127+26_127+27del NP_000150.1:n.127+26_127+27del
NM_013976.3:c.127+26_127+27del NP_039663.1:n.127+26_127+27del
NR_102316.1:n.235+26_235+27del
NR_102317.1:n.261_262del
XM_006722721.2:c.127+26_127+27del XP_006722784.1:n.127+26_127+27del
XM_011527899.1:c.127+26_127+27del XP_011526201.1:n.127+26_127+27del
XM_011527900.1:c.127+26_127+27del XP_011526202.1:n.127+26_127+27del
XM_011527899.2:c.127+26_127+27del XP_011526201.1:n.127+26_127+27del
XM_011527900.2:c.127+26_127+27del XP_011526202.1:n.127+26_127+27del
XM_017026580.1:c.127+26_127+27del XP_016882069.1:n.127+26_127+27del
NM_000159.4:c.127+26_127+27del MANE Select NP_000150.1:n.127+26_127+27del
NM_013976.4:c.127+26_127+27del NP_039663.1:n.127+26_127+27del
NM_013976.5:c.127+26_127+27del NP_039663.1:n.127+26_127+27del