Canonical Allele Identifier: CA942930343

Gene: SC5D

Linked Data

• dbSNP Id: rs1947970108
• gnomAD v4: 11-121306932-GAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306938_121306941del , CM000673.2:g.121306938_121306941del	GRCh38
NC_000011.9:g.121177647_121177650del , CM000673.1:g.121177647_121177650del	GRCh37
NC_000011.8:g.120682857_120682860del	NCBI36
NG_009446.1:g.19260_19263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-119_445-116del MANE Select	ENSP00000264027.4:n.445-119_445-116del
ENST00000264027.8:c.445-119_445-116del	ENSP00000264027.4:n.445-119_445-116del
ENST00000392789.2:c.445-119_445-116del	ENSP00000376539.2:n.445-119_445-116del
ENST00000527183.1:n.738-119_738-116del
ENST00000527762.5:c.466-119_466-116del	ENSP00000436290.1:n.466-119_466-116del
ENST00000528991.1:n.138-119_138-116del
ENST00000534230.5:c.445-119_445-116del	ENSP00000432550.1:n.445-119_445-116del
NM_001024956.2:c.445-119_445-116del	NP_001020127.1:n.445-119_445-116del
NM_006918.4:c.445-119_445-116del	NP_008849.2:n.445-119_445-116del
NM_006918.5:c.445-119_445-116del MANE Select	NP_008849.2:n.445-119_445-116del
NM_001024956.3:c.445-119_445-116del	NP_001020127.1:n.445-119_445-116del