Canonical Allele Identifier: CA2762527068

Gene: DSPP

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612642del , CM000666.2:g.87612642del	GRCh38
NC_000004.11:g.88533794del , CM000666.1:g.88533794del	GRCh37
NC_000004.10:g.88752818del	NCBI36
NG_011595.1:g.9114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.456del MANE Select	ENSP00000498766.1:p.Ser152ArgfsTer?
ENST00000282478.7:c.456del	ENSP00000282478.7:p.Ser152ArgfsTer?
ENST00000399271.5:c.456del	ENSP00000382213.1:p.Ser152ArgfsTer?
NM_014208.3:c.456del MANE Select	NP_055023.2:p.Ser152ArgfsTer?