Canonical Allele Identifier: CA645597312

Gene: IVD

Linked Data

• COSMIC: COSM6196461

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411644_40411652del , CM000677.2:g.40411644_40411652del	GRCh38
NC_000015.9:g.40703843_40703851del , CM000677.1:g.40703843_40703851del	GRCh37
NC_000015.8:g.38491135_38491143del	NCBI36
NG_011986.1:g.11158_11166del
NG_011986.2:g.11160_11168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.550_558del	ENSP00000417990.3:p.Ala184_Val186del
ENST00000487418.8:c.640_648del MANE Select	ENSP00000418397.3:p.Ala214_Val216del
ENST00000650656.1:c.559_567del	ENSP00000498731.1:p.Ala187_Val189del
ENST00000651168.1:c.649_657del	ENSP00000499074.1:p.Ala217_Val219del
ENST00000473112.6:c.399_407del
ENST00000479013.6:c.559_567del	ENSP00000417990.2:p.Ala187_Val189del
ENST00000481262.6:c.246_254del
ENST00000484250.1:n.263_271del
ENST00000487418.6:c.649_657del	ENSP00000418397.2:p.Ala217_Val219del
ENST00000491554.6:c.37_45del	ENSP00000453146.1:p.Ala13_Val15del
ENST00000558610.5:c.592_600del	ENSP00000453821.1:p.Ala198_Val200del
NM_001159508.1:c.559_567del	NP_001152980.1:p.Ala187_Val189del
NM_002225.3:c.649_657del	NP_002216.2:p.Ala217_Val219del
XM_005254350.2:c.649_657del	XP_005254407.1:p.Ala217_Val219del
XM_005254356.2:c.649_657del	XP_005254413.1:p.Ala217_Val219del
XM_006720491.2:c.592_600del	XP_006720554.1:p.Ala198_Val200del
XM_006720492.2:c.649_657del	XP_006720555.1:p.Ala217_Val219del
XM_006720493.2:c.649_657del	XP_006720556.1:p.Ala217_Val219del
XM_006720494.2:c.649_657del	XP_006720557.1:p.Ala217_Val219del
XM_006720495.2:c.649_657del	XP_006720558.1:p.Ala217_Val219del
XM_011521523.1:c.649_657del	XP_011519825.1:p.Ala217_Val219del
XM_011521524.1:c.649_657del	XP_011519826.1:p.Ala217_Val219del
XR_243097.3:n.649_657del
XR_243098.2:n.649_657del
XR_429453.2:n.750_758del
NM_001159508.2:c.550_558del	NP_001152980.2:p.Ala184_Val186del
NM_001354597.2:c.592_600del	NP_001341526.1:p.Ala198_Val200del
NM_001354598.2:c.640_648del	NP_001341527.2:p.Ala214_Val216del
NM_001354599.2:c.727_735del	NP_001341528.2:p.Ala243_Val245del
NM_001354600.2:c.727_735del	NP_001341529.2:p.Ala243_Val245del
NM_001354601.2:c.640_648del	NP_001341530.2:p.Ala214_Val216del
NM_002225.4:c.640_648del	NP_002216.3:p.Ala214_Val216del
NR_148925.1:n.1050_1058del
XM_006720495.3:c.649_657del	XP_006720558.1:p.Ala217_Val219del
XM_017022149.1:c.736_744del	XP_016877638.1:p.Ala246_Val248del
XM_017022150.1:c.736_744del	XP_016877639.1:p.Ala246_Val248del
XM_017022153.1:c.736_744del	XP_016877642.1:p.Ala246_Val248del
XM_017022154.2:c.679_687del	XP_016877643.1:p.Ala227_Val229del
XM_017022155.2:c.736_744del	XP_016877644.1:p.Ala246_Val248del
XM_017022157.1:c.736_744del	XP_016877646.1:p.Ala246_Val248del
XM_017022158.2:c.736_744del	XP_016877647.1:p.Ala246_Val248del
XR_001751263.1:n.999_1007del
XR_001751264.1:n.1040_1048del
NM_001159508.3:c.550_558del	NP_001152980.2:p.Ala184_Val186del
NM_001354597.3:c.592_600del	NP_001341526.1:p.Ala198_Val200del
NM_001354598.3:c.640_648del	NP_001341527.2:p.Ala214_Val216del
NM_001354599.3:c.727_735del	NP_001341528.2:p.Ala243_Val245del
NM_001354600.3:c.727_735del	NP_001341529.2:p.Ala243_Val245del
NM_001354601.3:c.640_648del	NP_001341530.2:p.Ala214_Val216del
NM_002225.5:c.640_648del MANE Select	NP_002216.3:p.Ala214_Val216del
NR_148925.2:n.1052_1060del