Canonical Allele Identifier: CA663338188

Gene: PDSS1

Linked Data

• dbSNP Id: rs1462016586
• gnomAD v3: 10-26697959-GCTCCGGGGTAGCTCCGGGGTGGGA-G
• gnomAD v4: 10-26697959-GCTCCGGGGTAGCTCCGGGGTGGGA-G
• MyVariant Identifiers: chr10:g.26986889_26986912del (hg19) ; chr10:g.26697960_26697983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697966_26697989del , CM000672.2:g.26697966_26697989del	GRCh38
NC_000010.10:g.26986895_26986918del , CM000672.1:g.26986895_26986918del	GRCh37
NC_000010.9:g.27026901_27026924del	NCBI36
NG_008972.1:g.5301_5324del
NG_008972.2:g.5301_5324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+126_129+149del MANE Select	ENSP00000365388.5:n.129+126_129+149del
ENST00000376215.9:c.129+126_129+149del	ENSP00000365388.5:n.129+126_129+149del
NM_014317.3:c.129+126_129+149del	NP_055132.2:n.129+126_129+149del
XR_428636.2:n.417+126_417+149del
XR_930486.1:n.417+126_417+149del
NM_001321978.1:c.129+126_129+149del	NP_001308907.1:n.129+126_129+149del
NM_001321979.1:c.-465+126_-465+149del	NP_001308908.1:n.-465+126_-465+149del
NM_014317.4:c.129+126_129+149del	NP_055132.2:n.129+126_129+149del
XM_024447922.1:c.129+126_129+149del	XP_024303690.1:n.129+126_129+149del
XR_428636.4:n.417+126_417+149del
NM_014317.5:c.129+126_129+149del MANE Select	NP_055132.2:n.129+126_129+149del
NM_001321978.2:c.129+126_129+149del	NP_001308907.1:n.129+126_129+149del
NM_001321979.2:c.-465+126_-465+149del	NP_001308908.1:n.-465+126_-465+149del