Canonical Allele Identifier: CA2627814749

Gene: IVD

Linked Data

• gnomAD v4: 15-40411284-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411287del , CM000677.2:g.40411287del	GRCh38
NC_000015.9:g.40703486del , CM000677.1:g.40703486del	GRCh37
NC_000015.8:g.38490778del	NCBI36
NG_011986.1:g.10801del
NG_011986.2:g.10803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.394del	ENSP00000417990.3:p.Leu132TrpfsTer3
ENST00000487418.8:c.484del MANE Select	ENSP00000418397.3:p.Leu162TrpfsTer3
ENST00000610693.5:c.571del	ENSP00000479359.2:p.Leu191TrpfsTer3
ENST00000650656.1:c.403del	ENSP00000498731.1:p.Leu135TrpfsTer3
ENST00000651168.1:c.493del	ENSP00000499074.1:p.Leu165TrpfsTer3
ENST00000473112.6:c.243del
ENST00000479013.6:c.403del	ENSP00000417990.2:p.Leu135TrpfsTer3
ENST00000481262.6:c.90del
ENST00000484250.1:n.107del
ENST00000487418.6:c.493del	ENSP00000418397.2:p.Leu165TrpfsTer3
ENST00000558610.5:c.436del	ENSP00000453821.1:p.Leu146TrpfsTer3
ENST00000610693.4:c.580del	ENSP00000479359.1:p.Leu194TrpfsTer3
NM_001159508.1:c.403del	NP_001152980.1:p.Leu135TrpfsTer3
NM_002225.3:c.493del	NP_002216.2:p.Leu165TrpfsTer3
XM_005254350.2:c.493del	XP_005254407.1:p.Leu165TrpfsTer3
XM_005254356.2:c.493del	XP_005254413.1:p.Leu165TrpfsTer3
XM_006720491.2:c.436del	XP_006720554.1:p.Leu146TrpfsTer3
XM_006720492.2:c.493del	XP_006720555.1:p.Leu165TrpfsTer3
XM_006720493.2:c.493del	XP_006720556.1:p.Leu165TrpfsTer3
XM_006720494.2:c.493del	XP_006720557.1:p.Leu165TrpfsTer3
XM_006720495.2:c.493del	XP_006720558.1:p.Leu165TrpfsTer3
XM_011521523.1:c.493del	XP_011519825.1:p.Leu165TrpfsTer3
XM_011521524.1:c.493del	XP_011519826.1:p.Leu165TrpfsTer3
XR_243097.3:n.493del
XR_243098.2:n.493del
XR_429453.2:n.594del
NM_001159508.2:c.394del	NP_001152980.2:p.Leu132TrpfsTer3
NM_001354597.2:c.436del	NP_001341526.1:p.Leu146TrpfsTer3
NM_001354598.2:c.484del	NP_001341527.2:p.Leu162TrpfsTer3
NM_001354599.2:c.571del	NP_001341528.2:p.Leu191TrpfsTer3
NM_001354600.2:c.571del	NP_001341529.2:p.Leu191TrpfsTer3
NM_001354601.2:c.484del	NP_001341530.2:p.Leu162TrpfsTer3
NM_002225.4:c.484del	NP_002216.3:p.Leu162TrpfsTer3
NR_148925.1:n.894del
XM_006720495.3:c.493del	XP_006720558.1:p.Leu165TrpfsTer3
XM_017022149.1:c.580del	XP_016877638.1:p.Leu194TrpfsTer3
XM_017022150.1:c.580del	XP_016877639.1:p.Leu194TrpfsTer3
XM_017022153.1:c.580del	XP_016877642.1:p.Leu194TrpfsTer3
XM_017022154.2:c.523del	XP_016877643.1:p.Leu175TrpfsTer3
XM_017022155.2:c.580del	XP_016877644.1:p.Leu194TrpfsTer3
XM_017022157.1:c.580del	XP_016877646.1:p.Leu194TrpfsTer3
XM_017022158.2:c.580del	XP_016877647.1:p.Leu194TrpfsTer3
XR_001751263.1:n.843del
XR_001751264.1:n.884del
NM_001159508.3:c.394del	NP_001152980.2:p.Leu132TrpfsTer3
NM_001354597.3:c.436del	NP_001341526.1:p.Leu146TrpfsTer3
NM_001354598.3:c.484del	NP_001341527.2:p.Leu162TrpfsTer3
NM_001354599.3:c.571del	NP_001341528.2:p.Leu191TrpfsTer3
NM_001354600.3:c.571del	NP_001341529.2:p.Leu191TrpfsTer3
NM_001354601.3:c.484del	NP_001341530.2:p.Leu162TrpfsTer3
NM_002225.5:c.484del MANE Select	NP_002216.3:p.Leu162TrpfsTer3
NR_148925.2:n.896del