Canonical Allele Identifier: CA2787040952

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697813del , CM000672.2:g.26697813del	GRCh38
NC_000010.10:g.26986742del , CM000672.1:g.26986742del	GRCh37
NC_000010.9:g.27026748del	NCBI36
NG_008972.1:g.5148del
NG_008972.2:g.5148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.102del MANE Select	ENSP00000365388.5:p.Ser35AlafsTer27
ENST00000376215.9:c.102del	ENSP00000365388.5:p.Ser35AlafsTer27
NM_014317.3:c.102del	NP_055132.2:p.Ser35AlafsTer27
XR_428636.2:n.390del
XR_930486.1:n.390del
NM_001321978.1:c.102del	NP_001308907.1:p.Ser35AlafsTer27
NM_001321979.1:c.-492del	NP_001308908.1:n.-492del
NM_014317.4:c.102del	NP_055132.2:p.Ser35AlafsTer27
XM_024447922.1:c.102del	XP_024303690.1:p.Ser35AlafsTer27
XR_428636.4:n.390del
NM_014317.5:c.102del MANE Select	NP_055132.2:p.Ser35AlafsTer27
NM_001321978.2:c.102del	NP_001308907.1:p.Ser35AlafsTer27
NM_001321979.2:c.-492del	NP_001308908.1:n.-492del