Canonical Allele Identifier: CA2171764355

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40408137_40408149delinsTCAGCCCAGAGAA , CM000677.2:g.40408137_40408149delinsTCAGCCCAGAGAA	GRCh38
NC_000015.9:g.40700336_40700348delinsTCAGCCCAGAGAA , CM000677.1:g.40700336_40700348delinsTCAGCCCAGAGAA	GRCh37
NC_000015.8:g.38487628_38487640delinsTCAGCCCAGAGAA	NCBI36
NG_011986.1:g.7651_7663delinsTCAGCCCAGAGAA
NG_011986.2:g.7653_7665delinsTCAGCCCAGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.196+147_196+159delinsTCAGCCCAGAGAA	ENSP00000417990.3:n.196+147_196+159delinsTCAGCCCAGAGAA
ENST00000487418.8:c.286+147_286+159delinsTCAGCCCAGAGAA MANE Select	ENSP00000418397.3:n.286+147_286+159delinsTCAGCCCAGAGAA
ENST00000610693.5:c.373+147_373+159delinsTCAGCCCAGAGAA	ENSP00000479359.2:n.373+147_373+159delinsTCAGCCCAGAGAA
ENST00000650656.1:c.205+147_205+159delinsTCAGCCCAGAGAA	ENSP00000498731.1:n.205+147_205+159delinsTCAGCCCAGAGAA
ENST00000651168.1:c.295+147_295+159delinsTCAGCCCAGAGAA	ENSP00000499074.1:n.295+147_295+159delinsTCAGCCCAGAGAA
ENST00000473112.6:c.45+147_45+159delinsTCAGCCCAGAGAA
ENST00000479013.6:c.205+147_205+159delinsTCAGCCCAGAGAA	ENSP00000417990.2:n.205+147_205+159delinsTCAGCCCAGAGAA
ENST00000487418.6:c.295+147_295+159delinsTCAGCCCAGAGAA	ENSP00000418397.2:n.295+147_295+159delinsTCAGCCCAGAGAA
ENST00000558610.5:c.238+147_238+159delinsTCAGCCCAGAGAA	ENSP00000453821.1:n.238+147_238+159delinsTCAGCCCAGAGAA
ENST00000610693.4:c.382+147_382+159delinsTCAGCCCAGAGAA	ENSP00000479359.1:n.382+147_382+159delinsTCAGCCCAGAGAA
NM_001159508.1:c.205+147_205+159delinsTCAGCCCAGAGAA	NP_001152980.1:n.205+147_205+159delinsTCAGCCCAGAGAA
NM_002225.3:c.295+147_295+159delinsTCAGCCCAGAGAA	NP_002216.2:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_005254350.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_005254407.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_005254356.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_005254413.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_006720491.2:c.238+147_238+159delinsTCAGCCCAGAGAA	XP_006720554.1:n.238+147_238+159delinsTCAGCCCAGAGAA
XM_006720492.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_006720555.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_006720493.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_006720556.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_006720494.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_006720557.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_006720495.2:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_006720558.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_011521523.1:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_011519825.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_011521524.1:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_011519826.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XR_243097.3:n.295+147_295+159delinsTCAGCCCAGAGAA
XR_243098.2:n.295+147_295+159delinsTCAGCCCAGAGAA
XR_429453.2:n.396+147_396+159delinsTCAGCCCAGAGAA
NM_001159508.2:c.196+147_196+159delinsTCAGCCCAGAGAA	NP_001152980.2:n.196+147_196+159delinsTCAGCCCAGAGAA
NM_001354597.2:c.238+147_238+159delinsTCAGCCCAGAGAA	NP_001341526.1:n.238+147_238+159delinsTCAGCCCAGAGAA
NM_001354598.2:c.286+147_286+159delinsTCAGCCCAGAGAA	NP_001341527.2:n.286+147_286+159delinsTCAGCCCAGAGAA
NM_001354599.2:c.373+147_373+159delinsTCAGCCCAGAGAA	NP_001341528.2:n.373+147_373+159delinsTCAGCCCAGAGAA
NM_001354600.2:c.373+147_373+159delinsTCAGCCCAGAGAA	NP_001341529.2:n.373+147_373+159delinsTCAGCCCAGAGAA
NM_001354601.2:c.286+147_286+159delinsTCAGCCCAGAGAA	NP_001341530.2:n.286+147_286+159delinsTCAGCCCAGAGAA
NM_002225.4:c.286+147_286+159delinsTCAGCCCAGAGAA	NP_002216.3:n.286+147_286+159delinsTCAGCCCAGAGAA
NR_148925.1:n.696+147_696+159delinsTCAGCCCAGAGAA
XM_006720495.3:c.295+147_295+159delinsTCAGCCCAGAGAA	XP_006720558.1:n.295+147_295+159delinsTCAGCCCAGAGAA
XM_017022149.1:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877638.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XM_017022150.1:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877639.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XM_017022153.1:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877642.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XM_017022154.2:c.325+147_325+159delinsTCAGCCCAGAGAA	XP_016877643.1:n.325+147_325+159delinsTCAGCCCAGAGAA
XM_017022155.2:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877644.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XM_017022157.1:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877646.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XM_017022158.2:c.382+147_382+159delinsTCAGCCCAGAGAA	XP_016877647.1:n.382+147_382+159delinsTCAGCCCAGAGAA
XR_001751263.1:n.645+147_645+159delinsTCAGCCCAGAGAA
XR_001751264.1:n.686+147_686+159delinsTCAGCCCAGAGAA
NM_001159508.3:c.196+147_196+159delinsTCAGCCCAGAGAA	NP_001152980.2:n.196+147_196+159delinsTCAGCCCAGAGAA
NM_001354597.3:c.238+147_238+159delinsTCAGCCCAGAGAA	NP_001341526.1:n.238+147_238+159delinsTCAGCCCAGAGAA
NM_001354598.3:c.286+147_286+159delinsTCAGCCCAGAGAA	NP_001341527.2:n.286+147_286+159delinsTCAGCCCAGAGAA
NM_001354599.3:c.373+147_373+159delinsTCAGCCCAGAGAA	NP_001341528.2:n.373+147_373+159delinsTCAGCCCAGAGAA
NM_001354600.3:c.373+147_373+159delinsTCAGCCCAGAGAA	NP_001341529.2:n.373+147_373+159delinsTCAGCCCAGAGAA
NM_001354601.3:c.286+147_286+159delinsTCAGCCCAGAGAA	NP_001341530.2:n.286+147_286+159delinsTCAGCCCAGAGAA
NM_002225.5:c.286+147_286+159delinsTCAGCCCAGAGAA MANE Select	NP_002216.3:n.286+147_286+159delinsTCAGCCCAGAGAA
NR_148925.2:n.698+147_698+159delinsTCAGCCCAGAGAA