Canonical Allele Identifier: CA221937
Gene: IVD HGNC NCBI

Linked Data

ClinVar Variation Id: 94056
dbSNP Id: rs398123684

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411301del , CM000677.2:g.40411301del GRCh38
NC_000015.9:g.40703500del , CM000677.1:g.40703500del GRCh37
NC_000015.8:g.38490792del NCBI36
NG_011986.1:g.10815del
NG_011986.2:g.10817del

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.408del ENSP00000417990.3:p.Glu136AspfsTer11
ENST00000487418.8:c.498del MANE Select ENSP00000418397.3:p.Glu166AspfsTer11
ENST00000610693.5:c.585del ENSP00000479359.2:p.Glu195AspfsTer11
ENST00000650656.1:c.417del ENSP00000498731.1:p.Glu139AspfsTer11
ENST00000651168.1:c.507del ENSP00000499074.1:p.Glu169AspfsTer11
ENST00000473112.6:c.257del
ENST00000479013.6:c.417del ENSP00000417990.2:p.Glu139AspfsTer11
ENST00000481262.6:c.104del
ENST00000484250.1:n.121del
ENST00000487418.6:c.507del ENSP00000418397.2:p.Glu169AspfsTer11
ENST00000558610.5:c.450del ENSP00000453821.1:p.Glu150AspfsTer11
ENST00000610693.4:c.594del ENSP00000479359.1:p.Glu198AspfsTer11
NM_001159508.1:c.417del NP_001152980.1:p.Glu139AspfsTer11
NM_002225.3:c.507del NP_002216.2:p.Glu169AspfsTer11
XM_005254350.2:c.507del XP_005254407.1:p.Glu169AspfsTer11
XM_005254356.2:c.507del XP_005254413.1:p.Glu169AspfsTer11
XM_006720491.2:c.450del XP_006720554.1:p.Glu150AspfsTer11
XM_006720492.2:c.507del XP_006720555.1:p.Glu169AspfsTer11
XM_006720493.2:c.507del XP_006720556.1:p.Glu169AspfsTer11
XM_006720494.2:c.507del XP_006720557.1:p.Glu169AspfsTer11
XM_006720495.2:c.507del XP_006720558.1:p.Glu169AspfsTer11
XM_011521523.1:c.507del XP_011519825.1:p.Glu169AspfsTer11
XM_011521524.1:c.507del XP_011519826.1:p.Glu169AspfsTer11
XR_243097.3:n.507del
XR_243098.2:n.507del
XR_429453.2:n.608del
NM_001159508.2:c.408del NP_001152980.2:p.Glu136AspfsTer11
NM_001354597.2:c.450del NP_001341526.1:p.Glu150AspfsTer11
NM_001354598.2:c.498del NP_001341527.2:p.Glu166AspfsTer11
NM_001354599.2:c.585del NP_001341528.2:p.Glu195AspfsTer11
NM_001354600.2:c.585del NP_001341529.2:p.Glu195AspfsTer11
NM_001354601.2:c.498del NP_001341530.2:p.Glu166AspfsTer11
NM_002225.4:c.498del NP_002216.3:p.Glu166AspfsTer11
NR_148925.1:n.908del
XM_006720495.3:c.507del XP_006720558.1:p.Glu169AspfsTer11
XM_017022149.1:c.594del XP_016877638.1:p.Glu198AspfsTer11
XM_017022150.1:c.594del XP_016877639.1:p.Glu198AspfsTer11
XM_017022153.1:c.594del XP_016877642.1:p.Glu198AspfsTer11
XM_017022154.2:c.537del XP_016877643.1:p.Glu179AspfsTer11
XM_017022155.2:c.594del XP_016877644.1:p.Glu198AspfsTer11
XM_017022157.1:c.594del XP_016877646.1:p.Glu198AspfsTer11
XM_017022158.2:c.594del XP_016877647.1:p.Glu198AspfsTer11
XR_001751263.1:n.857del
XR_001751264.1:n.898del
NM_001159508.3:c.408del NP_001152980.2:p.Glu136AspfsTer11
NM_001354597.3:c.450del NP_001341526.1:p.Glu150AspfsTer11
NM_001354598.3:c.498del NP_001341527.2:p.Glu166AspfsTer11
NM_001354599.3:c.585del NP_001341528.2:p.Glu195AspfsTer11
NM_001354600.3:c.585del NP_001341529.2:p.Glu195AspfsTer11
NM_001354601.3:c.498del NP_001341530.2:p.Glu166AspfsTer11
NM_002225.5:c.498del MANE Select NP_002216.3:p.Glu166AspfsTer11
NR_148925.2:n.910del