Canonical Allele Identifier: CA2695228354
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897827del , CM000681.2:g.12897827del GRCh38
NC_000019.9:g.13008641del , CM000681.1:g.13008641del GRCh37
NC_000019.8:g.12869641del NCBI36
NG_009292.1:g.11668del
NG_033049.1:g.26446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1207del MANE Select ENSP00000222214.4:p.His403ThrfsTer3
ENST00000222214.9:c.1207del ENSP00000222214.4:p.His403ThrfsTer3
ENST00000585420.5:n.1537del
ENST00000590472.5:c.251del
ENST00000590530.5:c.*647del ENSP00000468452.1:n.*647del
ENST00000591043.1:n.1517del
ENST00000591050.1:c.174del
ENST00000591470.5:c.1207del ENSP00000466845.1:p.His403ThrfsTer3
NM_000159.3:c.1207del NP_000150.1:p.His403ThrfsTer3
NM_013976.3:c.1207del NP_039663.1:p.His403ThrfsTer3
NR_102316.1:n.1370del
NR_102317.1:n.1588del
XM_006722721.2:c.1207del XP_006722784.1:p.His403ThrfsTer3
XM_011527899.1:c.1207del XP_011526201.1:p.His403ThrfsTer3
XM_011527900.1:c.1207del XP_011526202.1:p.His403ThrfsTer3
XM_011527899.2:c.1207del XP_011526201.1:p.His403ThrfsTer3
XM_011527900.2:c.1207del XP_011526202.1:p.His403ThrfsTer3
XM_017026580.1:c.1207del XP_016882069.1:p.His403ThrfsTer3
NM_000159.4:c.1207del MANE Select NP_000150.1:p.His403ThrfsTer3
NM_013976.4:c.1207del NP_039663.1:p.His403ThrfsTer3
NM_013976.5:c.1207del NP_039663.1:p.His403ThrfsTer3