Canonical Allele Identifier: CA663338180

Gene: PDSS1

Linked Data

• dbSNP Id: rs531513845
• gnomAD v3: 10-26697951-G-GCGGGGTAGCTC
• gnomAD v4: 10-26697951-G-GCGGGGTAGCTC
• MyVariant Identifiers: chr10:g.26986880_26986881insCGGGGTAGCTC (hg19) ; chr10:g.26697951_26697952insCGGGGTAGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697969_26697979dup , CM000672.2:g.26697969_26697979dup	GRCh38
NC_000010.10:g.26986898_26986908dup , CM000672.1:g.26986898_26986908dup	GRCh37
NC_000010.9:g.27026904_27026914dup	NCBI36
NG_008972.1:g.5304_5314dup
NG_008972.2:g.5304_5314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+129_129+139dup MANE Select	ENSP00000365388.5:n.129+129_129+139dup
ENST00000376215.9:c.129+129_129+139dup	ENSP00000365388.5:n.129+129_129+139dup
NM_014317.3:c.129+129_129+139dup	NP_055132.2:n.129+129_129+139dup
XR_428636.2:n.417+129_417+139dup
XR_930486.1:n.417+129_417+139dup
NM_001321978.1:c.129+129_129+139dup	NP_001308907.1:n.129+129_129+139dup
NM_001321979.1:c.-465+129_-465+139dup	NP_001308908.1:n.-465+129_-465+139dup
NM_014317.4:c.129+129_129+139dup	NP_055132.2:n.129+129_129+139dup
XM_024447922.1:c.129+129_129+139dup	XP_024303690.1:n.129+129_129+139dup
XR_428636.4:n.417+129_417+139dup
NM_014317.5:c.129+129_129+139dup MANE Select	NP_055132.2:n.129+129_129+139dup
NM_001321978.2:c.129+129_129+139dup	NP_001308907.1:n.129+129_129+139dup
NM_001321979.2:c.-465+129_-465+139dup	NP_001308908.1:n.-465+129_-465+139dup