Canonical Allele Identifier: CA2004810420
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121306932_121306936delinsGAATA , CM000673.2:g.121306932_121306936delinsGAATA GRCh38
NC_000011.9:g.121177641_121177645delinsGAATA , CM000673.1:g.121177641_121177645delinsGAATA GRCh37
NC_000011.8:g.120682851_120682855delinsGAATA NCBI36
NG_009446.1:g.19254_19258delinsGAATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.445-125_445-121delinsGAATA MANE Select ENSP00000264027.4:n.445-125_445-121delinsGAATA
ENST00000264027.8:c.445-125_445-121delinsGAATA ENSP00000264027.4:n.445-125_445-121delinsGAATA
ENST00000392789.2:c.445-125_445-121delinsGAATA ENSP00000376539.2:n.445-125_445-121delinsGAATA
ENST00000527183.1:n.738-125_738-121delinsGAATA
ENST00000527762.5:c.466-125_466-121delinsGAATA ENSP00000436290.1:n.466-125_466-121delinsGAATA
ENST00000528991.1:n.138-125_138-121delinsGAATA
ENST00000534230.5:c.445-125_445-121delinsGAATA ENSP00000432550.1:n.445-125_445-121delinsGAATA
NM_001024956.2:c.445-125_445-121delinsGAATA NP_001020127.1:n.445-125_445-121delinsGAATA
NM_006918.4:c.445-125_445-121delinsGAATA NP_008849.2:n.445-125_445-121delinsGAATA
NM_006918.5:c.445-125_445-121delinsGAATA MANE Select NP_008849.2:n.445-125_445-121delinsGAATA
NM_001024956.3:c.445-125_445-121delinsGAATA NP_001020127.1:n.445-125_445-121delinsGAATA