Canonical Allele Identifier: CA229856904

Gene: SC5D

Linked Data

• dbSNP Id: rs35440276
• MyVariant Identifiers: chr11:g.121177566_121177567insG (hg19) ; chr11:g.121306857_121306858insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306859dup , CM000673.2:g.121306859dup	GRCh38
NC_000011.9:g.121177568dup , CM000673.1:g.121177568dup	GRCh37
NC_000011.8:g.120682778dup	NCBI36
NG_009446.1:g.19181dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-198dup MANE Select	ENSP00000264027.4:n.445-198dup
ENST00000264027.8:c.445-198dup	ENSP00000264027.4:n.445-198dup
ENST00000392789.2:c.445-198dup	ENSP00000376539.2:n.445-198dup
ENST00000527183.1:n.738-198dup
ENST00000527762.5:c.466-198dup	ENSP00000436290.1:n.466-198dup
ENST00000528991.1:n.138-198dup
ENST00000534230.5:c.445-198dup	ENSP00000432550.1:n.445-198dup
NM_001024956.2:c.445-198dup	NP_001020127.1:n.445-198dup
NM_006918.4:c.445-198dup	NP_008849.2:n.445-198dup
NM_006918.5:c.445-198dup MANE Select	NP_008849.2:n.445-198dup
NM_001024956.3:c.445-198dup	NP_001020127.1:n.445-198dup