Canonical Allele Identifier: CA229854836

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121304683_121304684del , CM000673.2:g.121304683_121304684del	GRCh38
NC_000011.9:g.121175392_121175393del , CM000673.1:g.121175392_121175393del	GRCh37
NC_000011.8:g.120680602_120680603del	NCBI36
NG_009446.1:g.17005_17006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.343+190_343+191del MANE Select	ENSP00000264027.4:n.343+190_343+191del
ENST00000264027.8:c.343+190_343+191del	ENSP00000264027.4:n.343+190_343+191del
ENST00000392789.2:c.343+190_343+191del	ENSP00000376539.2:n.343+190_343+191del
ENST00000524683.5:n.1364_1365del
ENST00000527762.5:c.364+190_364+191del	ENSP00000436290.1:n.364+190_364+191del
ENST00000528991.1:n.109+190_109+191del
ENST00000531140.1:n.411+190_411+191del
ENST00000534230.5:c.343+190_343+191del	ENSP00000432550.1:n.343+190_343+191del
ENST00000534455.5:n.679_680del
NM_001024956.2:c.343+190_343+191del	NP_001020127.1:n.343+190_343+191del
NM_006918.4:c.343+190_343+191del	NP_008849.2:n.343+190_343+191del
NM_006918.5:c.343+190_343+191del MANE Select	NP_008849.2:n.343+190_343+191del
NM_001024956.3:c.343+190_343+191del	NP_001020127.1:n.343+190_343+191del