Canonical Allele Identifier: CA2825002261

Gene: IVD

Linked Data

• ClinVar Variation Id: 3233616
• ClinVar RCV Id: RCV004526466

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407965_40407966delinsTT , CM000677.2:g.40407965_40407966delinsTT	GRCh38
NC_000015.9:g.40700164_40700165delinsTT , CM000677.1:g.40700164_40700165delinsTT	GRCh37
NC_000015.8:g.38487456_38487457delinsTT	NCBI36
NG_011986.1:g.7479_7480delinsTT
NG_011986.2:g.7481_7482delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.171_172delinsTT	ENSP00000417990.3:p.Gly58Cys
ENST00000487418.8:c.261_262delinsTT MANE Select	ENSP00000418397.3:p.Gly88Cys
ENST00000610693.5:c.348_349delinsTT	ENSP00000479359.2:p.Gly117Cys
ENST00000650656.1:c.180_181delinsTT	ENSP00000498731.1:p.Gly61Cys
ENST00000651168.1:c.270_271delinsTT	ENSP00000499074.1:p.Gly91Cys
ENST00000473112.6:c.20_21delinsTT
ENST00000479013.6:c.180_181delinsTT	ENSP00000417990.2:p.Gly61Cys
ENST00000487418.6:c.270_271delinsTT	ENSP00000418397.2:p.Gly91Cys
ENST00000558610.5:c.213_214delinsTT	ENSP00000453821.1:p.Gly72Cys
ENST00000610693.4:c.357_358delinsTT	ENSP00000479359.1:p.Gly120Cys
NM_001159508.1:c.180_181delinsTT	NP_001152980.1:p.Gly61Cys
NM_002225.3:c.270_271delinsTT	NP_002216.2:p.Gly91Cys
XM_005254350.2:c.270_271delinsTT	XP_005254407.1:p.Gly91Cys
XM_005254356.2:c.270_271delinsTT	XP_005254413.1:p.Gly91Cys
XM_006720491.2:c.213_214delinsTT	XP_006720554.1:p.Gly72Cys
XM_006720492.2:c.270_271delinsTT	XP_006720555.1:p.Gly91Cys
XM_006720493.2:c.270_271delinsTT	XP_006720556.1:p.Gly91Cys
XM_006720494.2:c.270_271delinsTT	XP_006720557.1:p.Gly91Cys
XM_006720495.2:c.270_271delinsTT	XP_006720558.1:p.Gly91Cys
XM_011521523.1:c.270_271delinsTT	XP_011519825.1:p.Gly91Cys
XM_011521524.1:c.270_271delinsTT	XP_011519826.1:p.Gly91Cys
XR_243097.3:n.270_271delinsTT
XR_243098.2:n.270_271delinsTT
XR_429453.2:n.371_372delinsTT
NM_001159508.2:c.171_172delinsTT	NP_001152980.2:p.Gly58Cys
NM_001354597.2:c.213_214delinsTT	NP_001341526.1:p.Gly72Cys
NM_001354598.2:c.261_262delinsTT	NP_001341527.2:p.Gly88Cys
NM_001354599.2:c.348_349delinsTT	NP_001341528.2:p.Gly117Cys
NM_001354600.2:c.348_349delinsTT	NP_001341529.2:p.Gly117Cys
NM_001354601.2:c.261_262delinsTT	NP_001341530.2:p.Gly88Cys
NM_002225.4:c.261_262delinsTT	NP_002216.3:p.Gly88Cys
NR_148925.1:n.671_672delinsTT
XM_006720495.3:c.270_271delinsTT	XP_006720558.1:p.Gly91Cys
XM_017022149.1:c.357_358delinsTT	XP_016877638.1:p.Gly120Cys
XM_017022150.1:c.357_358delinsTT	XP_016877639.1:p.Gly120Cys
XM_017022153.1:c.357_358delinsTT	XP_016877642.1:p.Gly120Cys
XM_017022154.2:c.300_301delinsTT	XP_016877643.1:p.Gly101Cys
XM_017022155.2:c.357_358delinsTT	XP_016877644.1:p.Gly120Cys
XM_017022157.1:c.357_358delinsTT	XP_016877646.1:p.Gly120Cys
XM_017022158.2:c.357_358delinsTT	XP_016877647.1:p.Gly120Cys
XR_001751263.1:n.620_621delinsTT
XR_001751264.1:n.661_662delinsTT
NM_001159508.3:c.171_172delinsTT	NP_001152980.2:p.Gly58Cys
NM_001354597.3:c.213_214delinsTT	NP_001341526.1:p.Gly72Cys
NM_001354598.3:c.261_262delinsTT	NP_001341527.2:p.Gly88Cys
NM_001354599.3:c.348_349delinsTT	NP_001341528.2:p.Gly117Cys
NM_001354600.3:c.348_349delinsTT	NP_001341529.2:p.Gly117Cys
NM_001354601.3:c.261_262delinsTT	NP_001341530.2:p.Gly88Cys
NM_002225.5:c.261_262delinsTT MANE Select	NP_002216.3:p.Gly88Cys
NR_148925.2:n.673_674delinsTT