Canonical Allele Identifier: CA2608594897

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697825-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697826del , CM000672.2:g.26697826del	GRCh38
NC_000010.10:g.26986755del , CM000672.1:g.26986755del	GRCh37
NC_000010.9:g.27026761del	NCBI36
NG_008972.1:g.5161del
NG_008972.2:g.5161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.115del MANE Select	ENSP00000365388.5:p.Glu39LysfsTer23
ENST00000376215.9:c.115del	ENSP00000365388.5:p.Glu39LysfsTer23
NM_014317.3:c.115del	NP_055132.2:p.Glu39LysfsTer23
XR_428636.2:n.403del
XR_930486.1:n.403del
NM_001321978.1:c.115del	NP_001308907.1:p.Glu39LysfsTer23
NM_001321979.1:c.-479del	NP_001308908.1:n.-479del
NM_014317.4:c.115del	NP_055132.2:p.Glu39LysfsTer23
XM_024447922.1:c.115del	XP_024303690.1:p.Glu39LysfsTer23
XR_428636.4:n.403del
NM_014317.5:c.115del MANE Select	NP_055132.2:p.Glu39LysfsTer23
NM_001321978.2:c.115del	NP_001308907.1:p.Glu39LysfsTer23
NM_001321979.2:c.-479del	NP_001308908.1:n.-479del