Canonical Allele Identifier: CA2323623209
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896034_12896052delinsACAGCGGAAGTGACCCCAG , CM000681.2:g.12896034_12896052delinsACAGCGGAAGTGACCCCAG GRCh38
NC_000019.9:g.13006848_13006866delinsACAGCGGAAGTGACCCCAG , CM000681.1:g.13006848_13006866delinsACAGCGGAAGTGACCCCAG GRCh37
NC_000019.8:g.12867848_12867866delinsACAGCGGAAGTGACCCCAG NCBI36
NG_009292.1:g.9875_9893delinsACAGCGGAAGTGACCCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.548_566delinsACAGCGGAAGTGACCCCAG MANE Select ENSP00000222214.4:p.Asn183=
ENST00000222214.9:c.548_566delinsACAGCGGAAGTGACCCCAG ENSP00000222214.4:p.Asn183=
ENST00000421816.6:n.526_544delinsACAGCGGAAGTGACCCCAG
ENST00000585420.5:n.913_931delinsACAGCGGAAGTGACCCCAG
ENST00000590530.5:c.603_*6delinsACAGCGGAAGTGACCCCAG ENSP00000468452.1:n.[c.603_*6delinsACAGCGGAAGTGACCCCAG;Gln201...
ENST00000591043.1:n.584_602delinsACAGCGGAAGTGACCCCAG
ENST00000591470.5:c.548_566delinsACAGCGGAAGTGACCCCAG ENSP00000466845.1:p.Asn183=
NM_000159.3:c.548_566delinsACAGCGGAAGTGACCCCAG NP_000150.1:p.Asn183=
NM_013976.3:c.548_566delinsACAGCGGAAGTGACCCCAG NP_039663.1:p.Asn183=
NR_102316.1:n.711_729delinsACAGCGGAAGTGACCCCAG
NR_102317.1:n.964_982delinsACAGCGGAAGTGACCCCAG
XM_006722721.2:c.548_566delinsACAGCGGAAGTGACCCCAG XP_006722784.1:p.Asn183=
XM_011527899.1:c.548_566delinsACAGCGGAAGTGACCCCAG XP_011526201.1:p.Asn183=
XM_011527900.1:c.548_566delinsACAGCGGAAGTGACCCCAG XP_011526202.1:p.Asn183=
XM_011527899.2:c.548_566delinsACAGCGGAAGTGACCCCAG XP_011526201.1:p.Asn183=
XM_011527900.2:c.548_566delinsACAGCGGAAGTGACCCCAG XP_011526202.1:p.Asn183=
XM_017026580.1:c.548_566delinsACAGCGGAAGTGACCCCAG XP_016882069.1:p.Asn183=
NM_000159.4:c.548_566delinsACAGCGGAAGTGACCCCAG MANE Select NP_000150.1:p.Asn183=
NM_013976.4:c.548_566delinsACAGCGGAAGTGACCCCAG NP_039663.1:p.Asn183=
NM_013976.5:c.548_566delinsACAGCGGAAGTGACCCCAG NP_039663.1:p.Asn183=