Canonical Allele Identifier: CA663321921

Gene: PDSS1

Linked Data

• dbSNP Id: rs1207394268
• gnomAD v3: 10-26723668-GGAA-G
• gnomAD v4: 10-26723668-GGAA-G
• MyVariant Identifiers: chr10:g.27012598_27012600del (hg19) ; chr10:g.26723669_26723671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723676_26723678del , CM000672.2:g.26723676_26723678del	GRCh38
NC_000010.10:g.27012605_27012607del , CM000672.1:g.27012605_27012607del	GRCh37
NC_000010.9:g.27052611_27052613del	NCBI36
NG_008972.1:g.31011_31013del
NG_008972.2:g.31011_31013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.610-130_610-128del MANE Select	ENSP00000365388.5:n.610-130_610-128del
ENST00000376215.9:c.610-130_610-128del	ENSP00000365388.5:n.610-130_610-128del
ENST00000473224.1:n.444-130_444-128del
ENST00000491711.5:c.18-130_18-128del
NM_014317.3:c.610-130_610-128del	NP_055132.2:n.610-130_610-128del
XM_005252439.2:c.100-130_100-128del	XP_005252496.1:n.100-130_100-128del
XM_011519437.1:c.241-130_241-128del	XP_011517739.1:n.241-130_241-128del
XR_428636.2:n.898-130_898-128del
XR_930486.1:n.898-130_898-128del
NM_001321978.1:c.610-130_610-128del	NP_001308907.1:n.610-130_610-128del
NM_001321979.1:c.100-130_100-128del	NP_001308908.1:n.100-130_100-128del
NM_014317.4:c.610-130_610-128del	NP_055132.2:n.610-130_610-128del
XM_011519437.3:c.241-130_241-128del	XP_011517739.1:n.241-130_241-128del
XM_017016011.2:c.289-130_289-128del	XP_016871500.1:n.289-130_289-128del
XM_024447922.1:c.610-130_610-128del	XP_024303690.1:n.610-130_610-128del
XM_024447923.1:c.100-130_100-128del	XP_024303691.1:n.100-130_100-128del
XR_428636.4:n.898-130_898-128del
NM_014317.5:c.610-130_610-128del MANE Select	NP_055132.2:n.610-130_610-128del
NM_001321978.2:c.610-130_610-128del	NP_001308907.1:n.610-130_610-128del
NM_001321979.2:c.100-130_100-128del	NP_001308908.1:n.100-130_100-128del