Canonical Allele Identifier: CA2695197213
Community Standard Title: NM_002225.5(IVD):c.928del (p.Glu310LysfsTer12)
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40415450del , CM000677.2:g.40415450del GRCh38
NC_000015.9:g.40707649del , CM000677.1:g.40707649del GRCh37
NC_000015.8:g.38494941del NCBI36
NG_011986.1:g.14964del
NG_011986.2:g.14966del

Transcript Alleles

HGVS Amino-acid Change
NM_002225.5:c.928del MANE Select NP_002216.3:p.Glu310LysfsTer12
ENST00000487418.8:c.928del MANE Select ENSP00000418397.3:p.Glu310LysfsTer12
NM_001159508.1:c.847del NP_001152980.1:p.Glu283LysfsTer12
NM_001159508.2:c.838del NP_001152980.2:p.Glu280LysfsTer12
NM_001159508.3:c.838del NP_001152980.2:p.Glu280LysfsTer12
NM_001354597.2:c.880del NP_001341526.1:p.Glu294LysfsTer12
NM_001354597.3:c.880del NP_001341526.1:p.Glu294LysfsTer12
NM_001354598.2:c.928del NP_001341527.2:p.Glu310LysfsTer12
NM_001354598.3:c.928del NP_001341527.2:p.Glu310LysfsTer12
NM_001354599.2:c.1015del NP_001341528.2:p.Glu339LysfsTer12
NM_001354599.3:c.1015del NP_001341528.2:p.Glu339LysfsTer12
NM_001354600.2:c.1015del NP_001341529.2:p.Glu339LysfsTer12
NM_001354600.3:c.1015del NP_001341529.2:p.Glu339LysfsTer12
NM_001354601.2:c.928del NP_001341530.2:p.Glu310LysfsTer12
NM_001354601.3:c.928del NP_001341530.2:p.Glu310LysfsTer12
NM_002225.3:c.937del NP_002216.2:p.Glu313LysfsTer12
NM_002225.4:c.928del NP_002216.3:p.Glu310LysfsTer12
NR_148925.1:n.1338del
NR_148925.2:n.1340del
ENST00000473112.6:c.687del
ENST00000479013.6:c.847del ENSP00000417990.2:p.Glu283LysfsTer12
ENST00000479013.7:c.838del ENSP00000417990.3:p.Glu280LysfsTer12
ENST00000481262.6:c.440del
ENST00000487418.6:c.937del ENSP00000418397.2:p.Glu313LysfsTer12
ENST00000491554.6:c.325del ENSP00000453146.1:p.Glu109LysfsTer12
ENST00000497252.5:n.309del
ENST00000497816.1:n.305del
ENST00000560660.1:n.627del
ENST00000650656.1:c.847del ENSP00000498731.1:p.Glu283LysfsTer12
ENST00000651168.1:c.937del ENSP00000499074.1:p.Glu313LysfsTer12
XM_005254350.2:c.937del XP_005254407.1:p.Glu313LysfsTer12
XM_005254356.2:c.843del XP_005254413.1:n.843del
XM_006720491.2:c.880del XP_006720554.1:p.Glu294LysfsTer12
XM_006720492.2:c.937del XP_006720555.1:p.Glu313LysfsTer12
XM_006720493.2:c.937del XP_006720556.1:p.Glu313LysfsTer12
XM_006720494.2:c.937del XP_006720557.1:p.Glu313LysfsTer12
XM_006720495.2:c.937del XP_006720558.1:p.Glu313LysfsTer?
XM_006720495.3:c.937del XP_006720558.1:p.Glu313LysfsTer?
XM_011521523.1:c.937del XP_011519825.1:p.Glu313LysfsTer12
XM_017022149.1:c.1024del XP_016877638.1:p.Glu342LysfsTer12
XM_017022150.1:c.1024del XP_016877639.1:p.Glu342LysfsTer12
XM_017022153.1:c.1024del XP_016877642.1:p.Glu342LysfsTer12
XM_017022154.2:c.967del XP_016877643.1:p.Glu323LysfsTer12
XM_017022155.2:c.1024del XP_016877644.1:p.Glu342LysfsTer12
XM_017022157.1:c.1024del XP_016877646.1:p.Glu342LysfsTer?
XR_001751263.1:n.1287del
XR_001751264.1:n.1394del
XR_243097.3:n.843del
XR_243098.2:n.843del
XR_429453.2:n.1038del