Canonical Allele Identifier: CA1898185433

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709934_26709945delinsTGAGATCAGGAG , CM000672.2:g.26709934_26709945delinsTGAGATCAGGAG	GRCh38
NC_000010.10:g.26998863_26998874delinsTGAGATCAGGAG , CM000672.1:g.26998863_26998874delinsTGAGATCAGGAG	GRCh37
NC_000010.9:g.27038869_27038880delinsTGAGATCAGGAG	NCBI36
NG_008972.1:g.17269_17280delinsTGAGATCAGGAG
NG_008972.2:g.17269_17280delinsTGAGATCAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+166_467+177delinsTGAGATCAGGAG MANE Select	ENSP00000365388.5:n.467+166_467+177delinsTGAGATCAGGAG
ENST00000376215.9:c.467+166_467+177delinsTGAGATCAGGAG	ENSP00000365388.5:n.467+166_467+177delinsTGAGATCAGGAG
ENST00000473224.1:n.218+166_218+177delinsTGAGATCAGGAG
NM_014317.3:c.467+166_467+177delinsTGAGATCAGGAG	NP_055132.2:n.467+166_467+177delinsTGAGATCAGGAG
XM_005252439.2:c.-127+166_-127+177delinsTGAGATCAGGAG	XP_005252496.1:n.-127+166_-127+177delinsTGAGATCAGGAG
XM_011519437.1:c.98+166_98+177delinsTGAGATCAGGAG	XP_011517739.1:n.98+166_98+177delinsTGAGATCAGGAG
XR_428636.2:n.755+166_755+177delinsTGAGATCAGGAG
XR_930486.1:n.755+166_755+177delinsTGAGATCAGGAG
NM_001321978.1:c.467+166_467+177delinsTGAGATCAGGAG	NP_001308907.1:n.467+166_467+177delinsTGAGATCAGGAG
NM_001321979.1:c.-127+166_-127+177delinsTGAGATCAGGAG	NP_001308908.1:n.-127+166_-127+177delinsTGAGATCAGGAG
NM_014317.4:c.467+166_467+177delinsTGAGATCAGGAG	NP_055132.2:n.467+166_467+177delinsTGAGATCAGGAG
XM_011519437.3:c.98+166_98+177delinsTGAGATCAGGAG	XP_011517739.1:n.98+166_98+177delinsTGAGATCAGGAG
XM_017016011.2:c.146+166_146+177delinsTGAGATCAGGAG	XP_016871500.1:n.146+166_146+177delinsTGAGATCAGGAG
XM_024447922.1:c.467+166_467+177delinsTGAGATCAGGAG	XP_024303690.1:n.467+166_467+177delinsTGAGATCAGGAG
XM_024447923.1:c.-127+166_-127+177delinsTGAGATCAGGAG	XP_024303691.1:n.-127+166_-127+177delinsTGAGATCAGGAG
XR_428636.4:n.755+166_755+177delinsTGAGATCAGGAG
NM_014317.5:c.467+166_467+177delinsTGAGATCAGGAG MANE Select	NP_055132.2:n.467+166_467+177delinsTGAGATCAGGAG
NM_001321978.2:c.467+166_467+177delinsTGAGATCAGGAG	NP_001308907.1:n.467+166_467+177delinsTGAGATCAGGAG
NM_001321979.2:c.-127+166_-127+177delinsTGAGATCAGGAG	NP_001308908.1:n.-127+166_-127+177delinsTGAGATCAGGAG