Canonical Allele Identifier: CA1898185448

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709947_26709950delinsTTGA , CM000672.2:g.26709947_26709950delinsTTGA	GRCh38
NC_000010.10:g.26998876_26998879delinsTTGA , CM000672.1:g.26998876_26998879delinsTTGA	GRCh37
NC_000010.9:g.27038882_27038885delinsTTGA	NCBI36
NG_008972.1:g.17282_17285delinsTTGA
NG_008972.2:g.17282_17285delinsTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+179_467+182delinsTTGA MANE Select	ENSP00000365388.5:n.467+179_467+182delinsTTGA
ENST00000376215.9:c.467+179_467+182delinsTTGA	ENSP00000365388.5:n.467+179_467+182delinsTTGA
ENST00000473224.1:n.218+179_218+182delinsTTGA
NM_014317.3:c.467+179_467+182delinsTTGA	NP_055132.2:n.467+179_467+182delinsTTGA
XM_005252439.2:c.-127+179_-127+182delinsTTGA	XP_005252496.1:n.-127+179_-127+182delinsTTGA
XM_011519437.1:c.98+179_98+182delinsTTGA	XP_011517739.1:n.98+179_98+182delinsTTGA
XR_428636.2:n.755+179_755+182delinsTTGA
XR_930486.1:n.755+179_755+182delinsTTGA
NM_001321978.1:c.467+179_467+182delinsTTGA	NP_001308907.1:n.467+179_467+182delinsTTGA
NM_001321979.1:c.-127+179_-127+182delinsTTGA	NP_001308908.1:n.-127+179_-127+182delinsTTGA
NM_014317.4:c.467+179_467+182delinsTTGA	NP_055132.2:n.467+179_467+182delinsTTGA
XM_011519437.3:c.98+179_98+182delinsTTGA	XP_011517739.1:n.98+179_98+182delinsTTGA
XM_017016011.2:c.146+179_146+182delinsTTGA	XP_016871500.1:n.146+179_146+182delinsTTGA
XM_024447922.1:c.467+179_467+182delinsTTGA	XP_024303690.1:n.467+179_467+182delinsTTGA
XM_024447923.1:c.-127+179_-127+182delinsTTGA	XP_024303691.1:n.-127+179_-127+182delinsTTGA
XR_428636.4:n.755+179_755+182delinsTTGA
NM_014317.5:c.467+179_467+182delinsTTGA MANE Select	NP_055132.2:n.467+179_467+182delinsTTGA
NM_001321978.2:c.467+179_467+182delinsTTGA	NP_001308907.1:n.467+179_467+182delinsTTGA
NM_001321979.2:c.-127+179_-127+182delinsTTGA	NP_001308908.1:n.-127+179_-127+182delinsTTGA