Canonical Allele Identifier: CA2697554331

Gene: IVD

Linked Data

• ClinVar Variation Id: 2735812
• ClinVar RCV Id: RCV003501717

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407979_40407989del , CM000677.2:g.40407979_40407989del	GRCh38
NC_000015.9:g.40700178_40700188del , CM000677.1:g.40700178_40700188del	GRCh37
NC_000015.8:g.38487470_38487480del	NCBI36
NG_011986.1:g.7493_7503del
NG_011986.2:g.7495_7505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.185_195del	ENSP00000417990.3:p.Ile62SerfsTer?
ENST00000487418.8:c.275_285del MANE Select	ENSP00000418397.3:p.Ile92SerfsTer?
ENST00000610693.5:c.362_372del	ENSP00000479359.2:p.Ile121SerfsTer?
ENST00000650656.1:c.194_204del	ENSP00000498731.1:p.Ile65SerfsTer?
ENST00000651168.1:c.284_294del	ENSP00000499074.1:p.Ile95SerfsTer?
ENST00000473112.6:c.34_44del
ENST00000479013.6:c.194_204del	ENSP00000417990.2:p.Ile65SerfsTer?
ENST00000487418.6:c.284_294del	ENSP00000418397.2:p.Ile95SerfsTer?
ENST00000558610.5:c.227_237del	ENSP00000453821.1:p.Ile76SerfsTer?
ENST00000610693.4:c.371_381del	ENSP00000479359.1:p.Ile124SerfsTer?
NM_001159508.1:c.194_204del	NP_001152980.1:p.Ile65SerfsTer?
NM_002225.3:c.284_294del	NP_002216.2:p.Ile95SerfsTer?
XM_005254350.2:c.284_294del	XP_005254407.1:p.Ile95SerfsTer?
XM_005254356.2:c.284_294del	XP_005254413.1:p.Ile95SerfsTer?
XM_006720491.2:c.227_237del	XP_006720554.1:p.Ile76SerfsTer?
XM_006720492.2:c.284_294del	XP_006720555.1:p.Ile95SerfsTer?
XM_006720493.2:c.284_294del	XP_006720556.1:p.Ile95SerfsTer?
XM_006720494.2:c.284_294del	XP_006720557.1:p.Ile95SerfsTer?
XM_006720495.2:c.284_294del	XP_006720558.1:p.Ile95SerfsTer?
XM_011521523.1:c.284_294del	XP_011519825.1:p.Ile95SerfsTer?
XM_011521524.1:c.284_294del	XP_011519826.1:p.Ile95SerfsTer?
XR_243097.3:n.284_294del
XR_243098.2:n.284_294del
XR_429453.2:n.385_395del
NM_001159508.2:c.185_195del	NP_001152980.2:p.Ile62SerfsTer?
NM_001354597.2:c.227_237del	NP_001341526.1:p.Ile76SerfsTer?
NM_001354598.2:c.275_285del	NP_001341527.2:p.Ile92SerfsTer?
NM_001354599.2:c.362_372del	NP_001341528.2:p.Ile121SerfsTer?
NM_001354600.2:c.362_372del	NP_001341529.2:p.Ile121SerfsTer?
NM_001354601.2:c.275_285del	NP_001341530.2:p.Ile92SerfsTer?
NM_002225.4:c.275_285del	NP_002216.3:p.Ile92SerfsTer?
NR_148925.1:n.685_695del
XM_006720495.3:c.284_294del	XP_006720558.1:p.Ile95SerfsTer?
XM_017022149.1:c.371_381del	XP_016877638.1:p.Ile124SerfsTer?
XM_017022150.1:c.371_381del	XP_016877639.1:p.Ile124SerfsTer?
XM_017022153.1:c.371_381del	XP_016877642.1:p.Ile124SerfsTer?
XM_017022154.2:c.314_324del	XP_016877643.1:p.Ile105SerfsTer?
XM_017022155.2:c.371_381del	XP_016877644.1:p.Ile124SerfsTer?
XM_017022157.1:c.371_381del	XP_016877646.1:p.Ile124SerfsTer?
XM_017022158.2:c.371_381del	XP_016877647.1:p.Ile124SerfsTer?
XR_001751263.1:n.634_644del
XR_001751264.1:n.675_685del
NM_001159508.3:c.185_195del	NP_001152980.2:p.Ile62SerfsTer?
NM_001354597.3:c.227_237del	NP_001341526.1:p.Ile76SerfsTer?
NM_001354598.3:c.275_285del	NP_001341527.2:p.Ile92SerfsTer?
NM_001354599.3:c.362_372del	NP_001341528.2:p.Ile121SerfsTer?
NM_001354600.3:c.362_372del	NP_001341529.2:p.Ile121SerfsTer?
NM_001354601.3:c.275_285del	NP_001341530.2:p.Ile92SerfsTer?
NM_002225.5:c.275_285del MANE Select	NP_002216.3:p.Ile92SerfsTer?
NR_148925.2:n.687_697del