Canonical Allele Identifier: CA2787041346

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709931_26709932dup , CM000672.2:g.26709931_26709932dup	GRCh38
NC_000010.10:g.26998860_26998861dup , CM000672.1:g.26998860_26998861dup	GRCh37
NC_000010.9:g.27038866_27038867dup	NCBI36
NG_008972.1:g.17266_17267dup
NG_008972.2:g.17266_17267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+163_467+164dup MANE Select	ENSP00000365388.5:n.467+163_467+164dup
ENST00000376215.9:c.467+163_467+164dup	ENSP00000365388.5:n.467+163_467+164dup
ENST00000473224.1:n.218+163_218+164dup
NM_014317.3:c.467+163_467+164dup	NP_055132.2:n.467+163_467+164dup
XM_005252439.2:c.-127+163_-127+164dup	XP_005252496.1:n.-127+163_-127+164dup
XM_011519437.1:c.98+163_98+164dup	XP_011517739.1:n.98+163_98+164dup
XR_428636.2:n.755+163_755+164dup
XR_930486.1:n.755+163_755+164dup
NM_001321978.1:c.467+163_467+164dup	NP_001308907.1:n.467+163_467+164dup
NM_001321979.1:c.-127+163_-127+164dup	NP_001308908.1:n.-127+163_-127+164dup
NM_014317.4:c.467+163_467+164dup	NP_055132.2:n.467+163_467+164dup
XM_011519437.3:c.98+163_98+164dup	XP_011517739.1:n.98+163_98+164dup
XM_017016011.2:c.146+163_146+164dup	XP_016871500.1:n.146+163_146+164dup
XM_024447922.1:c.467+163_467+164dup	XP_024303690.1:n.467+163_467+164dup
XM_024447923.1:c.-127+163_-127+164dup	XP_024303691.1:n.-127+163_-127+164dup
XR_428636.4:n.755+163_755+164dup
NM_014317.5:c.467+163_467+164dup MANE Select	NP_055132.2:n.467+163_467+164dup
NM_001321978.2:c.467+163_467+164dup	NP_001308907.1:n.467+163_467+164dup
NM_001321979.2:c.-127+163_-127+164dup	NP_001308908.1:n.-127+163_-127+164dup