Canonical Allele Identifier: CA2580089368

Gene: IVD

Linked Data

• ClinVar Variation Id: 1725362
• ClinVar RCV Id: RCV002309046

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411349_40411350delinsT , CM000677.2:g.40411349_40411350delinsT	GRCh38
NC_000015.9:g.40703548_40703549delinsT , CM000677.1:g.40703548_40703549delinsT	GRCh37
NC_000015.8:g.38490840_38490841delinsT	NCBI36
NG_011986.1:g.10863_10864delinsT
NG_011986.2:g.10865_10866delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.456_457delinsT	ENSP00000417990.3:p.Lys152AsnfsTer8
ENST00000487418.8:c.546_547delinsT MANE Select	ENSP00000418397.3:p.Lys182AsnfsTer8
ENST00000610693.5:c.633_634delinsT	ENSP00000479359.2:p.Lys211AsnfsTer?
ENST00000650656.1:c.465_466delinsT	ENSP00000498731.1:p.Lys155AsnfsTer8
ENST00000651168.1:c.555_556delinsT	ENSP00000499074.1:p.Lys185AsnfsTer8
ENST00000473112.6:c.305_306delinsT
ENST00000479013.6:c.465_466delinsT	ENSP00000417990.2:p.Lys155AsnfsTer8
ENST00000481262.6:c.152_153delinsT
ENST00000484250.1:n.169_170delinsT
ENST00000487418.6:c.555_556delinsT	ENSP00000418397.2:p.Lys185AsnfsTer8
ENST00000558610.5:c.498_499delinsT	ENSP00000453821.1:p.Lys166AsnfsTer8
ENST00000610693.4:c.642_643delinsT	ENSP00000479359.1:p.Lys214AsnfsTer?
NM_001159508.1:c.465_466delinsT	NP_001152980.1:p.Lys155AsnfsTer8
NM_002225.3:c.555_556delinsT	NP_002216.2:p.Lys185AsnfsTer8
XM_005254350.2:c.555_556delinsT	XP_005254407.1:p.Lys185AsnfsTer8
XM_005254356.2:c.555_556delinsT	XP_005254413.1:p.Lys185AsnfsTer8
XM_006720491.2:c.498_499delinsT	XP_006720554.1:p.Lys166AsnfsTer8
XM_006720492.2:c.555_556delinsT	XP_006720555.1:p.Lys185AsnfsTer8
XM_006720493.2:c.555_556delinsT	XP_006720556.1:p.Lys185AsnfsTer8
XM_006720494.2:c.555_556delinsT	XP_006720557.1:p.Lys185AsnfsTer8
XM_006720495.2:c.555_556delinsT	XP_006720558.1:p.Lys185AsnfsTer8
XM_011521523.1:c.555_556delinsT	XP_011519825.1:p.Lys185AsnfsTer8
XM_011521524.1:c.555_556delinsT	XP_011519826.1:p.Lys185AsnfsTer8
XR_243097.3:n.555_556delinsT
XR_243098.2:n.555_556delinsT
XR_429453.2:n.656_657delinsT
NM_001159508.2:c.456_457delinsT	NP_001152980.2:p.Lys152AsnfsTer8
NM_001354597.2:c.498_499delinsT	NP_001341526.1:p.Lys166AsnfsTer8
NM_001354598.2:c.546_547delinsT	NP_001341527.2:p.Lys182AsnfsTer8
NM_001354599.2:c.633_634delinsT	NP_001341528.2:p.Lys211AsnfsTer8
NM_001354600.2:c.633_634delinsT	NP_001341529.2:p.Lys211AsnfsTer8
NM_001354601.2:c.546_547delinsT	NP_001341530.2:p.Lys182AsnfsTer8
NM_002225.4:c.546_547delinsT	NP_002216.3:p.Lys182AsnfsTer8
NR_148925.1:n.956_957delinsT
XM_006720495.3:c.555_556delinsT	XP_006720558.1:p.Lys185AsnfsTer8
XM_017022149.1:c.642_643delinsT	XP_016877638.1:p.Lys214AsnfsTer8
XM_017022150.1:c.642_643delinsT	XP_016877639.1:p.Lys214AsnfsTer8
XM_017022153.1:c.642_643delinsT	XP_016877642.1:p.Lys214AsnfsTer8
XM_017022154.2:c.585_586delinsT	XP_016877643.1:p.Lys195AsnfsTer8
XM_017022155.2:c.642_643delinsT	XP_016877644.1:p.Lys214AsnfsTer8
XM_017022157.1:c.642_643delinsT	XP_016877646.1:p.Lys214AsnfsTer8
XM_017022158.2:c.642_643delinsT	XP_016877647.1:p.Lys214AsnfsTer8
XR_001751263.1:n.905_906delinsT
XR_001751264.1:n.946_947delinsT
NM_001159508.3:c.456_457delinsT	NP_001152980.2:p.Lys152AsnfsTer8
NM_001354597.3:c.498_499delinsT	NP_001341526.1:p.Lys166AsnfsTer8
NM_001354598.3:c.546_547delinsT	NP_001341527.2:p.Lys182AsnfsTer8
NM_001354599.3:c.633_634delinsT	NP_001341528.2:p.Lys211AsnfsTer8
NM_001354600.3:c.633_634delinsT	NP_001341529.2:p.Lys211AsnfsTer8
NM_001354601.3:c.546_547delinsT	NP_001341530.2:p.Lys182AsnfsTer8
NM_002225.5:c.546_547delinsT MANE Select	NP_002216.3:p.Lys182AsnfsTer8
NR_148925.2:n.958_959delinsT