Canonical Allele Identifier: CA1898185428

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709932_26709944delinsCGTGAGATCAGGA , CM000672.2:g.26709932_26709944delinsCGTGAGATCAGGA	GRCh38
NC_000010.10:g.26998861_26998873delinsCGTGAGATCAGGA , CM000672.1:g.26998861_26998873delinsCGTGAGATCAGGA	GRCh37
NC_000010.9:g.27038867_27038879delinsCGTGAGATCAGGA	NCBI36
NG_008972.1:g.17267_17279delinsCGTGAGATCAGGA
NG_008972.2:g.17267_17279delinsCGTGAGATCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+164_467+176delinsCGTGAGATCAGGA MANE Select	ENSP00000365388.5:n.467+164_467+176delinsCGTGAGATCAGGA
ENST00000376215.9:c.467+164_467+176delinsCGTGAGATCAGGA	ENSP00000365388.5:n.467+164_467+176delinsCGTGAGATCAGGA
ENST00000473224.1:n.218+164_218+176delinsCGTGAGATCAGGA
NM_014317.3:c.467+164_467+176delinsCGTGAGATCAGGA	NP_055132.2:n.467+164_467+176delinsCGTGAGATCAGGA
XM_005252439.2:c.-127+164_-127+176delinsCGTGAGATCAGGA	XP_005252496.1:n.-127+164_-127+176delinsCGTGAGATCAGGA
XM_011519437.1:c.98+164_98+176delinsCGTGAGATCAGGA	XP_011517739.1:n.98+164_98+176delinsCGTGAGATCAGGA
XR_428636.2:n.755+164_755+176delinsCGTGAGATCAGGA
XR_930486.1:n.755+164_755+176delinsCGTGAGATCAGGA
NM_001321978.1:c.467+164_467+176delinsCGTGAGATCAGGA	NP_001308907.1:n.467+164_467+176delinsCGTGAGATCAGGA
NM_001321979.1:c.-127+164_-127+176delinsCGTGAGATCAGGA	NP_001308908.1:n.-127+164_-127+176delinsCGTGAGATCAGGA
NM_014317.4:c.467+164_467+176delinsCGTGAGATCAGGA	NP_055132.2:n.467+164_467+176delinsCGTGAGATCAGGA
XM_011519437.3:c.98+164_98+176delinsCGTGAGATCAGGA	XP_011517739.1:n.98+164_98+176delinsCGTGAGATCAGGA
XM_017016011.2:c.146+164_146+176delinsCGTGAGATCAGGA	XP_016871500.1:n.146+164_146+176delinsCGTGAGATCAGGA
XM_024447922.1:c.467+164_467+176delinsCGTGAGATCAGGA	XP_024303690.1:n.467+164_467+176delinsCGTGAGATCAGGA
XM_024447923.1:c.-127+164_-127+176delinsCGTGAGATCAGGA	XP_024303691.1:n.-127+164_-127+176delinsCGTGAGATCAGGA
XR_428636.4:n.755+164_755+176delinsCGTGAGATCAGGA
NM_014317.5:c.467+164_467+176delinsCGTGAGATCAGGA MANE Select	NP_055132.2:n.467+164_467+176delinsCGTGAGATCAGGA
NM_001321978.2:c.467+164_467+176delinsCGTGAGATCAGGA	NP_001308907.1:n.467+164_467+176delinsCGTGAGATCAGGA
NM_001321979.2:c.-127+164_-127+176delinsCGTGAGATCAGGA	NP_001308908.1:n.-127+164_-127+176delinsCGTGAGATCAGGA