Canonical Allele Identifier: CA2679872483

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107210529-ACTGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210532_107210536del , CM000668.2:g.107210532_107210536del	GRCh38
NC_000006.11:g.107531736_107531740del , CM000668.1:g.107531736_107531740del	GRCh37
NC_000006.10:g.107638429_107638433del	NCBI36
NG_013033.1:g.254042_254046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.913_917del MANE Select	ENSP00000358033.4:p.Thr305Ter
ENST00000369037.8:c.913_917del	ENSP00000358033.4:p.Thr305Ter
ENST00000449027.1:c.88_92del	ENSP00000392613.1:p.Thr30Ter
NM_020381.3:c.913_917del	NP_065114.3:p.Thr305Ter
XM_011535956.1:c.913_917del	XP_011534258.1:p.Thr305Ter
XM_011535957.1:c.876+1575_876+1579del	XP_011534259.1:n.876+1575_876+1579del
XM_011535958.1:c.778_782del	XP_011534260.1:p.Thr260Ter
XM_011535959.1:c.876+1575_876+1579del	XP_011534261.1:n.876+1575_876+1579del
XM_011535960.1:c.505_509del	XP_011534262.1:p.Thr169Ter
XM_011535961.1:c.703-16680_703-16676del	XP_011534263.1:n.703-16680_703-16676del
XM_011535962.1:c.505_509del	XP_011534264.1:p.Thr169Ter
XM_011535956.3:c.913_917del	XP_011534258.1:p.Thr305Ter
XM_011535957.3:c.876+1575_876+1579del	XP_011534259.1:n.876+1575_876+1579del
XM_011535958.3:c.778_782del	XP_011534260.1:p.Thr260Ter
XM_011535959.3:c.876+1575_876+1579del	XP_011534261.1:n.876+1575_876+1579del
XM_011535960.3:c.505_509del	XP_011534262.1:p.Thr169Ter
XM_011535961.3:c.703-16680_703-16676del	XP_011534263.1:n.703-16680_703-16676del
XM_011535962.2:c.505_509del	XP_011534264.1:p.Thr169Ter
XM_017011082.2:c.913_917del	XP_016866571.1:p.Thr305Ter
NM_020381.4:c.913_917del MANE Select	NP_065114.3:p.Thr305Ter