Canonical Allele Identifier: CA2616494387

Gene: SC5D

Linked Data

• gnomAD v4: 11-121306880-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306882_121306883del , CM000673.2:g.121306882_121306883del	GRCh38
NC_000011.9:g.121177591_121177592del , CM000673.1:g.121177591_121177592del	GRCh37
NC_000011.8:g.120682801_120682802del	NCBI36
NG_009446.1:g.19204_19205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-175_445-174del MANE Select	ENSP00000264027.4:n.445-175_445-174del
ENST00000264027.8:c.445-175_445-174del	ENSP00000264027.4:n.445-175_445-174del
ENST00000392789.2:c.445-175_445-174del	ENSP00000376539.2:n.445-175_445-174del
ENST00000527183.1:n.738-175_738-174del
ENST00000527762.5:c.466-175_466-174del	ENSP00000436290.1:n.466-175_466-174del
ENST00000528991.1:n.138-175_138-174del
ENST00000534230.5:c.445-175_445-174del	ENSP00000432550.1:n.445-175_445-174del
NM_001024956.2:c.445-175_445-174del	NP_001020127.1:n.445-175_445-174del
NM_006918.4:c.445-175_445-174del	NP_008849.2:n.445-175_445-174del
NM_006918.5:c.445-175_445-174del MANE Select	NP_008849.2:n.445-175_445-174del
NM_001024956.3:c.445-175_445-174del	NP_001020127.1:n.445-175_445-174del