Canonical Allele Identifier: CA1898185497

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709996_26709997delinsCA , CM000672.2:g.26709996_26709997delinsCA	GRCh38
NC_000010.10:g.26998925_26998926delinsCA , CM000672.1:g.26998925_26998926delinsCA	GRCh37
NC_000010.9:g.27038931_27038932delinsCA	NCBI36
NG_008972.1:g.17331_17332delinsCA
NG_008972.2:g.17331_17332delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+228_467+229delinsCA MANE Select	ENSP00000365388.5:n.467+228_467+229delinsCA
ENST00000376215.9:c.467+228_467+229delinsCA	ENSP00000365388.5:n.467+228_467+229delinsCA
ENST00000473224.1:n.218+228_218+229delinsCA
NM_014317.3:c.467+228_467+229delinsCA	NP_055132.2:n.467+228_467+229delinsCA
XM_005252439.2:c.-127+228_-127+229delinsCA	XP_005252496.1:n.-127+228_-127+229delinsCA
XM_011519437.1:c.98+228_98+229delinsCA	XP_011517739.1:n.98+228_98+229delinsCA
XR_428636.2:n.755+228_755+229delinsCA
XR_930486.1:n.755+228_755+229delinsCA
NM_001321978.1:c.467+228_467+229delinsCA	NP_001308907.1:n.467+228_467+229delinsCA
NM_001321979.1:c.-127+228_-127+229delinsCA	NP_001308908.1:n.-127+228_-127+229delinsCA
NM_014317.4:c.467+228_467+229delinsCA	NP_055132.2:n.467+228_467+229delinsCA
XM_011519437.3:c.98+228_98+229delinsCA	XP_011517739.1:n.98+228_98+229delinsCA
XM_017016011.2:c.146+228_146+229delinsCA	XP_016871500.1:n.146+228_146+229delinsCA
XM_024447922.1:c.467+228_467+229delinsCA	XP_024303690.1:n.467+228_467+229delinsCA
XM_024447923.1:c.-127+228_-127+229delinsCA	XP_024303691.1:n.-127+228_-127+229delinsCA
XR_428636.4:n.755+228_755+229delinsCA
NM_014317.5:c.467+228_467+229delinsCA MANE Select	NP_055132.2:n.467+228_467+229delinsCA
NM_001321978.2:c.467+228_467+229delinsCA	NP_001308907.1:n.467+228_467+229delinsCA
NM_001321979.2:c.-127+228_-127+229delinsCA	NP_001308908.1:n.-127+228_-127+229delinsCA