Canonical Allele Identifier: CA2575008777
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303350_121303351del , CM000673.2:g.121303350_121303351del GRCh38
NC_000011.9:g.121174059_121174060del , CM000673.1:g.121174059_121174060del GRCh37
NC_000011.8:g.120679269_120679270del NCBI36
NG_009446.1:g.15672_15673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.-10-16_-10-15del MANE Select ENSP00000264027.4:n.-10-16_-10-15del
ENST00000264027.8:c.-10-16_-10-15del ENSP00000264027.4:n.-10-16_-10-15del
ENST00000392789.2:c.-10-16_-10-15del ENSP00000376539.2:n.-10-16_-10-15del
ENST00000524683.5:n.47-16_47-15del
ENST00000527762.5:c.-10-16_-10-15del ENSP00000436290.1:n.-10-16_-10-15del
ENST00000531140.1:n.59-16_59-15del
ENST00000534230.5:c.-10-16_-10-15del ENSP00000432550.1:n.-10-16_-10-15del
ENST00000534455.5:n.137-16_137-15del
NM_001024956.2:c.-10-16_-10-15del NP_001020127.1:n.-10-16_-10-15del
NM_006918.4:c.-10-16_-10-15del NP_008849.2:n.-10-16_-10-15del
NM_006918.5:c.-10-16_-10-15del MANE Select NP_008849.2:n.-10-16_-10-15del
NM_001024956.3:c.-10-16_-10-15del NP_001020127.1:n.-10-16_-10-15del