Canonical Allele Identifier: CA2608594895

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697797-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697800del , CM000672.2:g.26697800del	GRCh38
NC_000010.10:g.26986729del , CM000672.1:g.26986729del	GRCh37
NC_000010.9:g.27026735del	NCBI36
NG_008972.1:g.5135del
NG_008972.2:g.5135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.89del MANE Select	ENSP00000365388.5:p.Gly30AspfsTer?
ENST00000376215.9:c.89del	ENSP00000365388.5:p.Gly30AspfsTer?
NM_014317.3:c.89del	NP_055132.2:p.Gly30AspfsTer?
XR_428636.2:n.377del
XR_930486.1:n.377del
NM_001321978.1:c.89del	NP_001308907.1:p.Gly30AspfsTer?
NM_001321979.1:c.-505del	NP_001308908.1:n.-505del
NM_014317.4:c.89del	NP_055132.2:p.Gly30AspfsTer?
XM_024447922.1:c.89del	XP_024303690.1:p.Gly30AspfsTer?
XR_428636.4:n.377del
NM_014317.5:c.89del MANE Select	NP_055132.2:p.Gly30AspfsTer?
NM_001321978.2:c.89del	NP_001308907.1:p.Gly30AspfsTer?
NM_001321979.2:c.-505del	NP_001308908.1:n.-505del