Canonical Allele Identifier: CA2813645045
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896270_12896278del , CM000681.2:g.12896270_12896278del GRCh38
NC_000019.9:g.13007084_13007092del , CM000681.1:g.13007084_13007092del GRCh37
NC_000019.8:g.12868084_12868092del NCBI36
NG_009292.1:g.10111_10119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.701_709del MANE Select ENSP00000222214.4:p.Arg234_Phe236del
ENST00000222214.9:c.701_709del ENSP00000222214.4:p.Arg234_Phe236del
ENST00000421816.6:n.679_687del
ENST00000585420.5:n.1031_1039del
ENST00000590530.5:c.*141_*149del ENSP00000468452.1:n.*141_*149del
ENST00000591043.1:n.737_745del
ENST00000591470.5:c.701_709del ENSP00000466845.1:p.Arg234_Phe236del
NM_000159.3:c.701_709del NP_000150.1:p.Arg234_Phe236del
NM_013976.3:c.701_709del NP_039663.1:p.Arg234_Phe236del
NR_102316.1:n.864_872del
NR_102317.1:n.1082_1090del
XM_006722721.2:c.701_709del XP_006722784.1:p.Arg234_Phe236del
XM_011527899.1:c.701_709del XP_011526201.1:p.Arg234_Phe236del
XM_011527900.1:c.701_709del XP_011526202.1:p.Arg234_Phe236del
XM_011527899.2:c.701_709del XP_011526201.1:p.Arg234_Phe236del
XM_011527900.2:c.701_709del XP_011526202.1:p.Arg234_Phe236del
XM_017026580.1:c.701_709del XP_016882069.1:p.Arg234_Phe236del
NM_000159.4:c.701_709del MANE Select NP_000150.1:p.Arg234_Phe236del
NM_013976.4:c.701_709del NP_039663.1:p.Arg234_Phe236del
NM_013976.5:c.701_709del NP_039663.1:p.Arg234_Phe236del