Canonical Allele Identifier: CA2580089352
Gene: IVD HGNC NCBI

Linked Data

ClinVar Variation Id: 3565
ClinVar RCV Id: RCV000003746

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407636_40407725del , CM000677.2:g.40407636_40407725del GRCh38
NC_000015.9:g.40699837_40699926del , CM000677.1:g.40699837_40699926del GRCh37
NC_000015.8:g.38487129_38487218del NCBI36
NG_011986.1:g.7152_7241del
NG_011986.2:g.7152_7241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.145-303_145-214del ENSP00000417990.3:n.145-303_145-214del
ENST00000487418.8:c.145_234del MANE Select ENSP00000418397.3:p.Leu49_Arg78del
ENST00000610693.5:c.145_234del ENSP00000479359.2:p.Leu49_Arg78del
ENST00000650656.1:c.154-303_154-214del ENSP00000498731.1:n.154-303_154-214del
ENST00000651168.1:c.154_243del ENSP00000499074.1:p.Leu52_Arg81del
ENST00000479013.6:c.154-303_154-214del ENSP00000417990.2:n.154-303_154-214del
ENST00000487418.6:c.154_243del ENSP00000418397.2:p.Leu52_Arg81del
ENST00000558610.5:c.97_186del ENSP00000453821.1:p.Leu33_Arg62del
ENST00000610693.4:c.154_243del ENSP00000479359.1:p.Leu52_Arg81del
NM_001159508.1:c.154-303_154-214del NP_001152980.1:n.154-303_154-214del
NM_002225.3:c.154_243del NP_002216.2:p.Leu52_Arg81del
XM_005254350.2:c.154_243del XP_005254407.1:p.Leu52_Arg81del
XM_005254356.2:c.154_243del XP_005254413.1:p.Leu52_Arg81del
XM_006720491.2:c.97_186del XP_006720554.1:p.Leu33_Arg62del
XM_006720492.2:c.154_243del XP_006720555.1:p.Leu52_Arg81del
XM_006720493.2:c.154_243del XP_006720556.1:p.Leu52_Arg81del
XM_006720494.2:c.154_243del XP_006720557.1:p.Leu52_Arg81del
XM_006720495.2:c.154_243del XP_006720558.1:p.Leu52_Arg81del
XM_011521523.1:c.154_243del XP_011519825.1:p.Leu52_Arg81del
XM_011521524.1:c.154_243del XP_011519826.1:p.Leu52_Arg81del
XR_243097.3:n.154_243del
XR_243098.2:n.154_243del
XR_429453.2:n.255_344del
NM_001159508.2:c.145-303_145-214del NP_001152980.2:n.145-303_145-214del
NM_001354597.2:c.97_186del NP_001341526.1:p.Leu33_Arg62del
NM_001354598.2:c.145_234del NP_001341527.2:p.Leu49_Arg78del
NM_001354599.2:c.145_234del NP_001341528.2:p.Leu49_Arg78del
NM_001354600.2:c.145_234del NP_001341529.2:p.Leu49_Arg78del
NM_001354601.2:c.145_234del NP_001341530.2:p.Leu49_Arg78del
NM_002225.4:c.145_234del NP_002216.3:p.Leu49_Arg78del
NR_148925.1:n.555_644del
XM_006720495.3:c.154_243del XP_006720558.1:p.Leu52_Arg81del
XM_017022149.1:c.154_243del XP_016877638.1:p.Leu52_Arg81del
XM_017022150.1:c.154_243del XP_016877639.1:p.Leu52_Arg81del
XM_017022153.1:c.154_243del XP_016877642.1:p.Leu52_Arg81del
XM_017022154.2:c.97_186del XP_016877643.1:p.Leu33_Arg62del
XM_017022155.2:c.154_243del XP_016877644.1:p.Leu52_Arg81del
XM_017022157.1:c.154_243del XP_016877646.1:p.Leu52_Arg81del
XM_017022158.2:c.154_243del XP_016877647.1:p.Leu52_Arg81del
XR_001751263.1:n.504_593del
XR_001751264.1:n.545_634del
NM_001159508.3:c.145-303_145-214del NP_001152980.2:n.145-303_145-214del
NM_001354597.3:c.97_186del NP_001341526.1:p.Leu33_Arg62del
NM_001354598.3:c.145_234del NP_001341527.2:p.Leu49_Arg78del
NM_001354599.3:c.145_234del NP_001341528.2:p.Leu49_Arg78del
NM_001354600.3:c.145_234del NP_001341529.2:p.Leu49_Arg78del
NM_001354601.3:c.145_234del NP_001341530.2:p.Leu49_Arg78del
NM_002225.5:c.145_234del MANE Select NP_002216.3:p.Leu49_Arg78del
NR_148925.2:n.557_646del