Canonical Allele Identifier: CA2580081413

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 2111945
• ClinVar RCV Id: RCV003024087

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697819_26697838dup , CM000672.2:g.26697819_26697838dup	GRCh38
NC_000010.10:g.26986748_26986767dup , CM000672.1:g.26986748_26986767dup	GRCh37
NC_000010.9:g.27026754_27026773dup	NCBI36
NG_008972.1:g.5154_5173dup
NG_008972.2:g.5154_5173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.108_127dup MANE Select	ENSP00000365388.5:p.Gln43ProfsTer26
ENST00000376215.9:c.108_127dup	ENSP00000365388.5:p.Gln43ProfsTer26
NM_014317.3:c.108_127dup	NP_055132.2:p.Gln43ProfsTer26
XR_428636.2:n.396_415dup
XR_930486.1:n.396_415dup
NM_001321978.1:c.108_127dup	NP_001308907.1:p.Gln43ProfsTer26
NM_001321979.1:c.-486_-467dup	NP_001308908.1:n.-486_-467dup
NM_014317.4:c.108_127dup	NP_055132.2:p.Gln43ProfsTer26
XM_024447922.1:c.108_127dup	XP_024303690.1:p.Gln43ProfsTer26
XR_428636.4:n.396_415dup
NM_014317.5:c.108_127dup MANE Select	NP_055132.2:p.Gln43ProfsTer26
NM_001321978.2:c.108_127dup	NP_001308907.1:p.Gln43ProfsTer26
NM_001321979.2:c.-486_-467dup	NP_001308908.1:n.-486_-467dup