Canonical Allele Identifier: CA2580613807

Gene: SORD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45061110_45061112del , CM000677.2:g.45061110_45061112del	GRCh38
NC_000015.9:g.45353308_45353310del , CM000677.1:g.45353308_45353310del	GRCh37
NC_000015.8:g.43140600_43140602del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003104.6:c.309_311del MANE Select	NP_003095.2:p.Asp103del
ENST00000267814.14:c.309_311del MANE Select	ENSP00000267814.9:p.Asp103del
NM_003104.5:c.309_311del	NP_003095.2:p.Asp103del
NR_034039.1:n.574_576del
NR_034039.2:n.483_485del
ENST00000267814.13:c.309_311del	ENSP00000267814.9:p.Asp103del
ENST00000558580.1:c.246_248del	ENSP00000453122.1:p.Asp82del
ENST00000558789.5:c.266-4161_266-4159del	ENSP00000453904.1:n.266-4161_266-4159del
ENST00000559230.5:c.*40_*42del	ENSP00000452731.1:n.*40_*42del
ENST00000674368.1:n.3165-4161_3165-4159del
ENST00000674387.1:c.*40_*42del	ENSP00000501379.1:n.*40_*42del
ENST00000674405.1:c.309_311del	ENSP00000501421.1:p.Asp103del