Canonical Allele Identifier: CA2695228342
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896106del , CM000681.2:g.12896106del GRCh38
NC_000019.9:g.13006920del , CM000681.1:g.13006920del GRCh37
NC_000019.8:g.12867920del NCBI36
NG_009292.1:g.9947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.620del MANE Select ENSP00000222214.4:p.Asn207MetfsTer17
ENST00000222214.9:c.620del ENSP00000222214.4:p.Asn207MetfsTer17
ENST00000421816.6:n.598del
ENST00000585420.5:n.985del
ENST00000590530.5:c.*60del ENSP00000468452.1:n.*60del
ENST00000591043.1:n.656del
ENST00000591470.5:c.620del ENSP00000466845.1:p.Asn207MetfsTer17
NM_000159.3:c.620del NP_000150.1:p.Asn207MetfsTer17
NM_013976.3:c.620del NP_039663.1:p.Asn207MetfsTer17
NR_102316.1:n.783del
NR_102317.1:n.1036del
XM_006722721.2:c.620del XP_006722784.1:p.Asn207MetfsTer17
XM_011527899.1:c.620del XP_011526201.1:p.Asn207MetfsTer17
XM_011527900.1:c.620del XP_011526202.1:p.Asn207MetfsTer17
XM_011527899.2:c.620del XP_011526201.1:p.Asn207MetfsTer17
XM_011527900.2:c.620del XP_011526202.1:p.Asn207MetfsTer17
XM_017026580.1:c.620del XP_016882069.1:p.Asn207MetfsTer17
NM_000159.4:c.620del MANE Select NP_000150.1:p.Asn207MetfsTer17
NM_013976.4:c.620del NP_039663.1:p.Asn207MetfsTer17
NM_013976.5:c.620del NP_039663.1:p.Asn207MetfsTer17