Canonical Allele Identifier: CA1898170605

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697942_26697943delinsCG , CM000672.2:g.26697942_26697943delinsCG	GRCh38
NC_000010.10:g.26986871_26986872delinsCG , CM000672.1:g.26986871_26986872delinsCG	GRCh37
NC_000010.9:g.27026877_27026878delinsCG	NCBI36
NG_008972.1:g.5277_5278delinsCG
NG_008972.2:g.5277_5278delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+102_129+103delinsCG MANE Select	ENSP00000365388.5:n.129+102_129+103delinsCG
ENST00000376215.9:c.129+102_129+103delinsCG	ENSP00000365388.5:n.129+102_129+103delinsCG
NM_014317.3:c.129+102_129+103delinsCG	NP_055132.2:n.129+102_129+103delinsCG
XR_428636.2:n.417+102_417+103delinsCG
XR_930486.1:n.417+102_417+103delinsCG
NM_001321978.1:c.129+102_129+103delinsCG	NP_001308907.1:n.129+102_129+103delinsCG
NM_001321979.1:c.-465+102_-465+103delinsCG	NP_001308908.1:n.-465+102_-465+103delinsCG
NM_014317.4:c.129+102_129+103delinsCG	NP_055132.2:n.129+102_129+103delinsCG
XM_024447922.1:c.129+102_129+103delinsCG	XP_024303690.1:n.129+102_129+103delinsCG
XR_428636.4:n.417+102_417+103delinsCG
NM_014317.5:c.129+102_129+103delinsCG MANE Select	NP_055132.2:n.129+102_129+103delinsCG
NM_001321978.2:c.129+102_129+103delinsCG	NP_001308907.1:n.129+102_129+103delinsCG
NM_001321979.2:c.-465+102_-465+103delinsCG	NP_001308908.1:n.-465+102_-465+103delinsCG