Canonical Allele Identifier: CA2679872481

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107210492-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210493dup , CM000668.2:g.107210493dup	GRCh38
NC_000006.11:g.107531697dup , CM000668.1:g.107531697dup	GRCh37
NC_000006.10:g.107638390dup	NCBI36
NG_013033.1:g.254083dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.954dup MANE Select	ENSP00000358033.4:p.Val319SerfsTer14
ENST00000369037.8:c.954dup	ENSP00000358033.4:p.Val319SerfsTer14
ENST00000449027.1:c.129dup	ENSP00000392613.1:p.Val44SerfsTer14
NM_020381.3:c.954dup	NP_065114.3:p.Val319SerfsTer14
XM_011535956.1:c.954dup	XP_011534258.1:p.Val319SerfsTer14
XM_011535957.1:c.876+1616dup	XP_011534259.1:n.876+1616dup
XM_011535958.1:c.819dup	XP_011534260.1:p.Val274SerfsTer14
XM_011535959.1:c.876+1616dup	XP_011534261.1:n.876+1616dup
XM_011535960.1:c.546dup	XP_011534262.1:p.Val183SerfsTer14
XM_011535961.1:c.703-16639dup	XP_011534263.1:n.703-16639dup
XM_011535962.1:c.546dup	XP_011534264.1:p.Val183SerfsTer14
XM_011535956.3:c.954dup	XP_011534258.1:p.Val319SerfsTer14
XM_011535957.3:c.876+1616dup	XP_011534259.1:n.876+1616dup
XM_011535958.3:c.819dup	XP_011534260.1:p.Val274SerfsTer14
XM_011535959.3:c.876+1616dup	XP_011534261.1:n.876+1616dup
XM_011535960.3:c.546dup	XP_011534262.1:p.Val183SerfsTer14
XM_011535961.3:c.703-16639dup	XP_011534263.1:n.703-16639dup
XM_011535962.2:c.546dup	XP_011534264.1:p.Val183SerfsTer14
XM_017011082.2:c.954dup	XP_016866571.1:p.Val319SerfsTer14
NM_020381.4:c.954dup MANE Select	NP_065114.3:p.Val319SerfsTer14