Canonical Allele Identifier: CA942929194

Gene: SC5D

Linked Data

• gnomAD v3: 11-121303357-AT-A
• gnomAD v4: 11-121303357-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303363del , CM000673.2:g.121303363del	GRCh38
NC_000011.9:g.121174072del , CM000673.1:g.121174072del	GRCh37
NC_000011.8:g.120679282del	NCBI36
NG_009446.1:g.15685del

Transcript Alleles

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