Canonical Allele Identifier: CA1898160251

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723783_26723784delinsGT , CM000672.2:g.26723783_26723784delinsGT	GRCh38
NC_000010.10:g.27012712_27012713delinsGT , CM000672.1:g.27012712_27012713delinsGT	GRCh37
NC_000010.9:g.27052718_27052719delinsGT	NCBI36
NG_008972.1:g.31118_31119delinsGT
NG_008972.2:g.31118_31119delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.610-23_610-22delinsGT MANE Select	ENSP00000365388.5:n.610-23_610-22delinsGT...
ENST00000376215.9:c.610-23_610-22delinsGT	ENSP00000365388.5:n.610-23_610-22delinsGT...
ENST00000473224.1:n.444-23_444-22delinsGT
ENST00000491711.5:c.18-23_18-22delinsGT
NM_014317.3:c.610-23_610-22delinsGT	NP_055132.2:n.610-23_610-22delinsGT
XM_005252439.2:c.100-23_100-22delinsGT	XP_005252496.1:n.100-23_100-22delinsGT
XM_011519437.1:c.241-23_241-22delinsGT	XP_011517739.1:n.241-23_241-22delinsGT
XR_428636.2:n.898-23_898-22delinsGT
XR_930486.1:n.898-23_898-22delinsGT
NM_001321978.1:c.610-23_610-22delinsGT	NP_001308907.1:n.610-23_610-22delinsGT
NM_001321979.1:c.100-23_100-22delinsGT	NP_001308908.1:n.100-23_100-22delinsGT
NM_014317.4:c.610-23_610-22delinsGT	NP_055132.2:n.610-23_610-22delinsGT
XM_011519437.3:c.241-23_241-22delinsGT	XP_011517739.1:n.241-23_241-22delinsGT
XM_017016011.2:c.289-23_289-22delinsGT	XP_016871500.1:n.289-23_289-22delinsGT
XM_024447922.1:c.610-23_610-22delinsGT	XP_024303690.1:n.610-23_610-22delinsGT
XM_024447923.1:c.100-23_100-22delinsGT	XP_024303691.1:n.100-23_100-22delinsGT
XR_428636.4:n.898-23_898-22delinsGT
NM_014317.5:c.610-23_610-22delinsGT MANE Select	NP_055132.2:n.610-23_610-22delinsGT
NM_001321978.2:c.610-23_610-22delinsGT	NP_001308907.1:n.610-23_610-22delinsGT
NM_001321979.2:c.100-23_100-22delinsGT	NP_001308908.1:n.100-23_100-22delinsGT