Canonical Allele Identifier: CA602232608

Gene: SC5D

Linked Data

• dbSNP Id: rs1340714887
• gnomAD v2: 11-121177557-GTATA-G
• gnomAD v3: 11-121306848-GTATA-G
• gnomAD v4: 11-121306848-GTATA-G
• MyVariant Identifiers: chr11:g.121177558_121177561del (hg19) ; chr11:g.121306849_121306852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306850_121306853del , CM000673.2:g.121306850_121306853del	GRCh38
NC_000011.9:g.121177559_121177562del , CM000673.1:g.121177559_121177562del	GRCh37
NC_000011.8:g.120682769_120682772del	NCBI36
NG_009446.1:g.19172_19175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-207_445-204del MANE Select	ENSP00000264027.4:n.445-207_445-204del
ENST00000264027.8:c.445-207_445-204del	ENSP00000264027.4:n.445-207_445-204del
ENST00000392789.2:c.445-207_445-204del	ENSP00000376539.2:n.445-207_445-204del
ENST00000527183.1:n.738-207_738-204del
ENST00000527762.5:c.466-207_466-204del	ENSP00000436290.1:n.466-207_466-204del
ENST00000528991.1:n.138-207_138-204del
ENST00000534230.5:c.445-207_445-204del	ENSP00000432550.1:n.445-207_445-204del
NM_001024956.2:c.445-207_445-204del	NP_001020127.1:n.445-207_445-204del
NM_006918.4:c.445-207_445-204del	NP_008849.2:n.445-207_445-204del
NM_006918.5:c.445-207_445-204del MANE Select	NP_008849.2:n.445-207_445-204del
NM_001024956.3:c.445-207_445-204del	NP_001020127.1:n.445-207_445-204del