Canonical Allele Identifier: CA663338068

Gene: PDSS1

Linked Data

• dbSNP Id: rs1400044685
• gnomAD v3: 10-26697858-G-GCGCC
• gnomAD v4: 10-26697858-G-GCGCC
• MyVariant Identifiers: chr10:g.26986787_26986788insCGCC (hg19) ; chr10:g.26697858_26697859insCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697861_26697864dup , CM000672.2:g.26697861_26697864dup	GRCh38
NC_000010.10:g.26986790_26986793dup , CM000672.1:g.26986790_26986793dup	GRCh37
NC_000010.9:g.27026796_27026799dup	NCBI36
NG_008972.1:g.5196_5199dup
NG_008972.2:g.5196_5199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+21_129+24dup MANE Select	ENSP00000365388.5:n.129+21_129+24dup
ENST00000376215.9:c.129+21_129+24dup	ENSP00000365388.5:n.129+21_129+24dup
NM_014317.3:c.129+21_129+24dup	NP_055132.2:n.129+21_129+24dup
XR_428636.2:n.417+21_417+24dup
XR_930486.1:n.417+21_417+24dup
NM_001321978.1:c.129+21_129+24dup	NP_001308907.1:n.129+21_129+24dup
NM_001321979.1:c.-465+21_-465+24dup	NP_001308908.1:n.-465+21_-465+24dup
NM_014317.4:c.129+21_129+24dup	NP_055132.2:n.129+21_129+24dup
XM_024447922.1:c.129+21_129+24dup	XP_024303690.1:n.129+21_129+24dup
XR_428636.4:n.417+21_417+24dup
NM_014317.5:c.129+21_129+24dup MANE Select	NP_055132.2:n.129+21_129+24dup
NM_001321978.2:c.129+21_129+24dup	NP_001308907.1:n.129+21_129+24dup
NM_001321979.2:c.-465+21_-465+24dup	NP_001308908.1:n.-465+21_-465+24dup