Canonical Allele Identifier: CA2580089350

Gene: IVD

Linked Data

• ClinVar Variation Id: 1705327
• ClinVar RCV Id: RCV002283641
• gnomAD v4: 15-40405952-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40405954dup , CM000677.2:g.40405954dup	GRCh38
NC_000015.9:g.40698155dup , CM000677.1:g.40698155dup	GRCh37
NC_000015.8:g.38485447dup	NCBI36
NG_011986.1:g.5470dup
NG_011986.2:g.5470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.127dup	ENSP00000417990.3:p.Ser43LysfsTer?
ENST00000487418.8:c.127dup MANE Select	ENSP00000418397.3:p.Ser43LysfsTer13
ENST00000610693.5:c.127dup	ENSP00000479359.2:p.Ser43LysfsTer13
ENST00000650656.1:c.136dup	ENSP00000498731.1:p.Ser46LysfsTer?
ENST00000651168.1:c.136dup	ENSP00000499074.1:p.Ser46LysfsTer13
ENST00000479013.6:c.136dup	ENSP00000417990.2:p.Ser46LysfsTer?
ENST00000487418.6:c.136dup	ENSP00000418397.2:p.Ser46LysfsTer13
ENST00000610693.4:c.136dup	ENSP00000479359.1:p.Ser46LysfsTer13
NM_001159508.1:c.136dup	NP_001152980.1:p.Ser46LysfsTer?
NM_002225.3:c.136dup	NP_002216.2:p.Ser46LysfsTer13
XM_005254350.2:c.136dup	XP_005254407.1:p.Ser46LysfsTer13
XM_005254356.2:c.136dup	XP_005254413.1:p.Ser46LysfsTer13
XM_006720492.2:c.136dup	XP_006720555.1:p.Ser46LysfsTer13
XM_006720493.2:c.136dup	XP_006720556.1:p.Ser46LysfsTer13
XM_006720494.2:c.136dup	XP_006720557.1:p.Ser46LysfsTer13
XM_006720495.2:c.136dup	XP_006720558.1:p.Ser46LysfsTer13
XM_011521523.1:c.136dup	XP_011519825.1:p.Ser46LysfsTer13
XM_011521524.1:c.136dup	XP_011519826.1:p.Ser46LysfsTer13
XR_243097.3:n.136dup
XR_243098.2:n.136dup
XR_429453.2:n.237dup
NM_001159508.2:c.127dup	NP_001152980.2:p.Ser43LysfsTer?
NM_001354597.2:c.-301dup	NP_001341526.1:n.-301dup
NM_001354598.2:c.127dup	NP_001341527.2:p.Ser43LysfsTer13
NM_001354599.2:c.127dup	NP_001341528.2:p.Ser43LysfsTer13
NM_001354600.2:c.127dup	NP_001341529.2:p.Ser43LysfsTer13
NM_001354601.2:c.127dup	NP_001341530.2:p.Ser43LysfsTer13
NM_002225.4:c.127dup	NP_002216.3:p.Ser43LysfsTer13
NR_148925.1:n.158dup
XM_006720495.3:c.136dup	XP_006720558.1:p.Ser46LysfsTer13
XM_017022149.1:c.136dup	XP_016877638.1:p.Ser46LysfsTer13
XM_017022150.1:c.136dup	XP_016877639.1:p.Ser46LysfsTer13
XM_017022153.1:c.136dup	XP_016877642.1:p.Ser46LysfsTer13
XM_017022155.2:c.136dup	XP_016877644.1:p.Ser46LysfsTer13
XM_017022157.1:c.136dup	XP_016877646.1:p.Ser46LysfsTer13
XM_017022158.2:c.136dup	XP_016877647.1:p.Ser46LysfsTer13
XR_001751263.1:n.107dup
XR_001751264.1:n.148dup
NM_001159508.3:c.127dup	NP_001152980.2:p.Ser43LysfsTer?
NM_001354597.3:c.-301dup	NP_001341526.1:n.-301dup
NM_001354598.3:c.127dup	NP_001341527.2:p.Ser43LysfsTer13
NM_001354599.3:c.127dup	NP_001341528.2:p.Ser43LysfsTer13
NM_001354600.3:c.127dup	NP_001341529.2:p.Ser43LysfsTer13
NM_001354601.3:c.127dup	NP_001341530.2:p.Ser43LysfsTer13
NM_002225.5:c.127dup MANE Select	NP_002216.3:p.Ser43LysfsTer13
NR_148925.2:n.160dup