Canonical Allele Identifier: CA663338187

Gene: PDSS1

Linked Data

• dbSNP Id: rs1183539315
• gnomAD v3: 10-26697958-A-AGCTCCGGGGTAGCTCCGGGGTGGG
• gnomAD v4: 10-26697958-A-AGCTCCGGGGTAGCTCCGGGGTGGG
• MyVariant Identifiers: chr10:g.26986887_26986888insGCTCCGGGGTAGCTCCGGGGTGGG (hg19) ; chr10:g.26697958_26697959insGCTCCGGGGTAGCTCCGGGGTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697959_26697982dup , CM000672.2:g.26697959_26697982dup	GRCh38
NC_000010.10:g.26986888_26986911dup , CM000672.1:g.26986888_26986911dup	GRCh37
NC_000010.9:g.27026894_27026917dup	NCBI36
NG_008972.1:g.5294_5317dup
NG_008972.2:g.5294_5317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+119_129+142dup MANE Select	ENSP00000365388.5:n.129+119_129+142dup
ENST00000376215.9:c.129+119_129+142dup	ENSP00000365388.5:n.129+119_129+142dup
NM_014317.3:c.129+119_129+142dup	NP_055132.2:n.129+119_129+142dup
XR_428636.2:n.417+119_417+142dup
XR_930486.1:n.417+119_417+142dup
NM_001321978.1:c.129+119_129+142dup	NP_001308907.1:n.129+119_129+142dup
NM_001321979.1:c.-465+119_-465+142dup	NP_001308908.1:n.-465+119_-465+142dup
NM_014317.4:c.129+119_129+142dup	NP_055132.2:n.129+119_129+142dup
XM_024447922.1:c.129+119_129+142dup	XP_024303690.1:n.129+119_129+142dup
XR_428636.4:n.417+119_417+142dup
NM_014317.5:c.129+119_129+142dup MANE Select	NP_055132.2:n.129+119_129+142dup
NM_001321978.2:c.129+119_129+142dup	NP_001308907.1:n.129+119_129+142dup
NM_001321979.2:c.-465+119_-465+142dup	NP_001308908.1:n.-465+119_-465+142dup