Canonical Allele Identifier: CA592626342

Gene: PDSS1

Linked Data

• dbSNP Id: rs1433941894
• gnomAD v2: 10-26986713-TC-T
• gnomAD v4: 10-26697784-TC-T
• MyVariant Identifiers: chr10:g.26986714del (hg19) ; chr10:g.26697785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697789del , CM000672.2:g.26697789del	GRCh38
NC_000010.10:g.26986718del , CM000672.1:g.26986718del	GRCh37
NC_000010.9:g.27026724del	NCBI36
NG_008972.1:g.5124del
NG_008972.2:g.5124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.78del MANE Select	ENSP00000365388.5:p.Gly27AlafsTer?
ENST00000376215.9:c.78del	ENSP00000365388.5:p.Gly27AlafsTer?
NM_014317.3:c.78del	NP_055132.2:p.Gly27AlafsTer?
XR_428636.2:n.366del
XR_930486.1:n.366del
NM_001321978.1:c.78del	NP_001308907.1:p.Gly27AlafsTer?
NM_001321979.1:c.-516del	NP_001308908.1:n.-516del
NM_014317.4:c.78del	NP_055132.2:p.Gly27AlafsTer?
XM_024447922.1:c.78del	XP_024303690.1:p.Gly27AlafsTer?
XR_428636.4:n.366del
NM_014317.5:c.78del MANE Select	NP_055132.2:p.Gly27AlafsTer?
NM_001321978.2:c.78del	NP_001308907.1:p.Gly27AlafsTer?
NM_001321979.2:c.-516del	NP_001308908.1:n.-516del