Canonical Allele Identifier: CA2787040959

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697919_26697920del , CM000672.2:g.26697919_26697920del	GRCh38
NC_000010.10:g.26986848_26986849del , CM000672.1:g.26986848_26986849del	GRCh37
NC_000010.9:g.27026854_27026855del	NCBI36
NG_008972.1:g.5254_5255del
NG_008972.2:g.5254_5255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+79_129+80del MANE Select	ENSP00000365388.5:n.129+79_129+80del
ENST00000376215.9:c.129+79_129+80del	ENSP00000365388.5:n.129+79_129+80del
NM_014317.3:c.129+79_129+80del	NP_055132.2:n.129+79_129+80del
XR_428636.2:n.417+79_417+80del
XR_930486.1:n.417+79_417+80del
NM_001321978.1:c.129+79_129+80del	NP_001308907.1:n.129+79_129+80del
NM_001321979.1:c.-465+79_-465+80del	NP_001308908.1:n.-465+79_-465+80del
NM_014317.4:c.129+79_129+80del	NP_055132.2:n.129+79_129+80del
XM_024447922.1:c.129+79_129+80del	XP_024303690.1:n.129+79_129+80del
XR_428636.4:n.417+79_417+80del
NM_014317.5:c.129+79_129+80del MANE Select	NP_055132.2:n.129+79_129+80del
NM_001321978.2:c.129+79_129+80del	NP_001308907.1:n.129+79_129+80del
NM_001321979.2:c.-465+79_-465+80del	NP_001308908.1:n.-465+79_-465+80del