Canonical Allele Identifier: CA1898185501

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26710004_26710005delinsAT , CM000672.2:g.26710004_26710005delinsAT	GRCh38
NC_000010.10:g.26998933_26998934delinsAT , CM000672.1:g.26998933_26998934delinsAT	GRCh37
NC_000010.9:g.27038939_27038940delinsAT	NCBI36
NG_008972.1:g.17339_17340delinsAT
NG_008972.2:g.17339_17340delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+236_467+237delinsAT MANE Select	ENSP00000365388.5:n.467+236_467+237delinsAT
ENST00000376215.9:c.467+236_467+237delinsAT	ENSP00000365388.5:n.467+236_467+237delinsAT
ENST00000473224.1:n.218+236_218+237delinsAT
NM_014317.3:c.467+236_467+237delinsAT	NP_055132.2:n.467+236_467+237delinsAT
XM_005252439.2:c.-127+236_-127+237delinsAT	XP_005252496.1:n.-127+236_-127+237delinsAT
XM_011519437.1:c.98+236_98+237delinsAT	XP_011517739.1:n.98+236_98+237delinsAT
XR_428636.2:n.755+236_755+237delinsAT
XR_930486.1:n.755+236_755+237delinsAT
NM_001321978.1:c.467+236_467+237delinsAT	NP_001308907.1:n.467+236_467+237delinsAT
NM_001321979.1:c.-127+236_-127+237delinsAT	NP_001308908.1:n.-127+236_-127+237delinsAT
NM_014317.4:c.467+236_467+237delinsAT	NP_055132.2:n.467+236_467+237delinsAT
XM_011519437.3:c.98+236_98+237delinsAT	XP_011517739.1:n.98+236_98+237delinsAT
XM_017016011.2:c.146+236_146+237delinsAT	XP_016871500.1:n.146+236_146+237delinsAT
XM_024447922.1:c.467+236_467+237delinsAT	XP_024303690.1:n.467+236_467+237delinsAT
XM_024447923.1:c.-127+236_-127+237delinsAT	XP_024303691.1:n.-127+236_-127+237delinsAT
XR_428636.4:n.755+236_755+237delinsAT
NM_014317.5:c.467+236_467+237delinsAT MANE Select	NP_055132.2:n.467+236_467+237delinsAT
NM_001321978.2:c.467+236_467+237delinsAT	NP_001308907.1:n.467+236_467+237delinsAT
NM_001321979.2:c.-127+236_-127+237delinsAT	NP_001308908.1:n.-127+236_-127+237delinsAT