Canonical Allele Identifier: CA2787040956

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697870dup , CM000672.2:g.26697870dup	GRCh38
NC_000010.10:g.26986799dup , CM000672.1:g.26986799dup	GRCh37
NC_000010.9:g.27026805dup	NCBI36
NG_008972.1:g.5205dup
NG_008972.2:g.5205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+30dup MANE Select	ENSP00000365388.5:n.129+30dup
ENST00000376215.9:c.129+30dup	ENSP00000365388.5:n.129+30dup
NM_014317.3:c.129+30dup	NP_055132.2:n.129+30dup
XR_428636.2:n.417+30dup
XR_930486.1:n.417+30dup
NM_001321978.1:c.129+30dup	NP_001308907.1:n.129+30dup
NM_001321979.1:c.-465+30dup	NP_001308908.1:n.-465+30dup
NM_014317.4:c.129+30dup	NP_055132.2:n.129+30dup
XM_024447922.1:c.129+30dup	XP_024303690.1:n.129+30dup
XR_428636.4:n.417+30dup
NM_014317.5:c.129+30dup MANE Select	NP_055132.2:n.129+30dup
NM_001321978.2:c.129+30dup	NP_001308907.1:n.129+30dup
NM_001321979.2:c.-465+30dup	NP_001308908.1:n.-465+30dup