Canonical Allele Identifier: CA1898185325

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709824_26709825delinsCG , CM000672.2:g.26709824_26709825delinsCG	GRCh38
NC_000010.10:g.26998753_26998754delinsCG , CM000672.1:g.26998753_26998754delinsCG	GRCh37
NC_000010.9:g.27038759_27038760delinsCG	NCBI36
NG_008972.1:g.17159_17160delinsCG
NG_008972.2:g.17159_17160delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+56_467+57delinsCG MANE Select	ENSP00000365388.5:n.467+56_467+57delinsCG
ENST00000376215.9:c.467+56_467+57delinsCG	ENSP00000365388.5:n.467+56_467+57delinsCG
ENST00000473224.1:n.218+56_218+57delinsCG
NM_014317.3:c.467+56_467+57delinsCG	NP_055132.2:n.467+56_467+57delinsCG
XM_005252439.2:c.-127+56_-127+57delinsCG	XP_005252496.1:n.-127+56_-127+57delinsCG
XM_011519437.1:c.98+56_98+57delinsCG	XP_011517739.1:n.98+56_98+57delinsCG
XR_428636.2:n.755+56_755+57delinsCG
XR_930486.1:n.755+56_755+57delinsCG
NM_001321978.1:c.467+56_467+57delinsCG	NP_001308907.1:n.467+56_467+57delinsCG
NM_001321979.1:c.-127+56_-127+57delinsCG	NP_001308908.1:n.-127+56_-127+57delinsCG
NM_014317.4:c.467+56_467+57delinsCG	NP_055132.2:n.467+56_467+57delinsCG
XM_011519437.3:c.98+56_98+57delinsCG	XP_011517739.1:n.98+56_98+57delinsCG
XM_017016011.2:c.146+56_146+57delinsCG	XP_016871500.1:n.146+56_146+57delinsCG
XM_024447922.1:c.467+56_467+57delinsCG	XP_024303690.1:n.467+56_467+57delinsCG
XM_024447923.1:c.-127+56_-127+57delinsCG	XP_024303691.1:n.-127+56_-127+57delinsCG
XR_428636.4:n.755+56_755+57delinsCG
NM_014317.5:c.467+56_467+57delinsCG MANE Select	NP_055132.2:n.467+56_467+57delinsCG
NM_001321978.2:c.467+56_467+57delinsCG	NP_001308907.1:n.467+56_467+57delinsCG
NM_001321979.2:c.-127+56_-127+57delinsCG	NP_001308908.1:n.-127+56_-127+57delinsCG