Canonical Allele Identifier: CA663337966

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1930510
• ClinVar RCV Id: RCV002645759
• dbSNP Id: rs1281749239
• gnomAD v3: 10-26697814-AGCGCCGCTG-A
• gnomAD v4: 10-26697814-AGCGCCGCTG-A
• MyVariant Identifiers: chr10:g.26986744_26986752del (hg19) ; chr10:g.26697815_26697823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697815_26697823del , CM000672.2:g.26697815_26697823del	GRCh38
NC_000010.10:g.26986744_26986752del , CM000672.1:g.26986744_26986752del	GRCh37
NC_000010.9:g.27026750_27026758del	NCBI36
NG_008972.1:g.5150_5158del
NG_008972.2:g.5150_5158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.104_112del MANE Select	ENSP00000365388.5:p.Ser35_Ala38delinsThr
ENST00000376215.9:c.104_112del	ENSP00000365388.5:p.Ser35_Ala38delinsThr
NM_014317.3:c.104_112del	NP_055132.2:p.Ser35_Ala38delinsThr
XR_428636.2:n.392_400del
XR_930486.1:n.392_400del
NM_001321978.1:c.104_112del	NP_001308907.1:p.Ser35_Ala38delinsThr
NM_001321979.1:c.-490_-482del	NP_001308908.1:n.-490_-482del
NM_014317.4:c.104_112del	NP_055132.2:p.Ser35_Ala38delinsThr
XM_024447922.1:c.104_112del	XP_024303690.1:p.Ser35_Ala38delinsThr
XR_428636.4:n.392_400del
NM_014317.5:c.104_112del MANE Select	NP_055132.2:p.Ser35_Ala38delinsThr
NM_001321978.2:c.104_112del	NP_001308907.1:p.Ser35_Ala38delinsThr
NM_001321979.2:c.-490_-482del	NP_001308908.1:n.-490_-482del