Canonical Allele Identifier: CA2580089370

Gene: IVD

Linked Data

• ClinVar Variation Id: 1726528
• ClinVar RCV Id: RCV002310212

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411644_40411645del , CM000677.2:g.40411644_40411645del	GRCh38
NC_000015.9:g.40703843_40703844del , CM000677.1:g.40703843_40703844del	GRCh37
NC_000015.8:g.38491135_38491136del	NCBI36
NG_011986.1:g.11158_11159del
NG_011986.2:g.11160_11161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.550_551del	ENSP00000417990.3:p.Ala184CysfsTer21
ENST00000487418.8:c.640_641del MANE Select	ENSP00000418397.3:p.Ala214CysfsTer21
ENST00000650656.1:c.559_560del	ENSP00000498731.1:p.Ala187CysfsTer21
ENST00000651168.1:c.649_650del	ENSP00000499074.1:p.Ala217CysfsTer21
ENST00000473112.6:c.399_400del
ENST00000479013.6:c.559_560del	ENSP00000417990.2:p.Ala187CysfsTer21
ENST00000481262.6:c.246_247del
ENST00000484250.1:n.263_264del
ENST00000487418.6:c.649_650del	ENSP00000418397.2:p.Ala217CysfsTer21
ENST00000491554.6:c.37_38del	ENSP00000453146.1:p.Ala13CysfsTer21
ENST00000558610.5:c.592_593del	ENSP00000453821.1:p.Ala198CysfsTer?
NM_001159508.1:c.559_560del	NP_001152980.1:p.Ala187CysfsTer21
NM_002225.3:c.649_650del	NP_002216.2:p.Ala217CysfsTer21
XM_005254350.2:c.649_650del	XP_005254407.1:p.Ala217CysfsTer21
XM_005254356.2:c.649_650del	XP_005254413.1:p.Ala217CysfsTer21
XM_006720491.2:c.592_593del	XP_006720554.1:p.Ala198CysfsTer21
XM_006720492.2:c.649_650del	XP_006720555.1:p.Ala217CysfsTer21
XM_006720493.2:c.649_650del	XP_006720556.1:p.Ala217CysfsTer21
XM_006720494.2:c.649_650del	XP_006720557.1:p.Ala217CysfsTer21
XM_006720495.2:c.649_650del	XP_006720558.1:p.Ala217CysfsTer21
XM_011521523.1:c.649_650del	XP_011519825.1:p.Ala217CysfsTer21
XM_011521524.1:c.649_650del	XP_011519826.1:p.Ala217CysfsTer21
XR_243097.3:n.649_650del
XR_243098.2:n.649_650del
XR_429453.2:n.750_751del
NM_001159508.2:c.550_551del	NP_001152980.2:p.Ala184CysfsTer21
NM_001354597.2:c.592_593del	NP_001341526.1:p.Ala198CysfsTer21
NM_001354598.2:c.640_641del	NP_001341527.2:p.Ala214CysfsTer21
NM_001354599.2:c.727_728del	NP_001341528.2:p.Ala243CysfsTer21
NM_001354600.2:c.727_728del	NP_001341529.2:p.Ala243CysfsTer21
NM_001354601.2:c.640_641del	NP_001341530.2:p.Ala214CysfsTer21
NM_002225.4:c.640_641del	NP_002216.3:p.Ala214CysfsTer21
NR_148925.1:n.1050_1051del
XM_006720495.3:c.649_650del	XP_006720558.1:p.Ala217CysfsTer21
XM_017022149.1:c.736_737del	XP_016877638.1:p.Ala246CysfsTer21
XM_017022150.1:c.736_737del	XP_016877639.1:p.Ala246CysfsTer21
XM_017022153.1:c.736_737del	XP_016877642.1:p.Ala246CysfsTer21
XM_017022154.2:c.679_680del	XP_016877643.1:p.Ala227CysfsTer21
XM_017022155.2:c.736_737del	XP_016877644.1:p.Ala246CysfsTer21
XM_017022157.1:c.736_737del	XP_016877646.1:p.Ala246CysfsTer21
XM_017022158.2:c.736_737del	XP_016877647.1:p.Ala246CysfsTer21
XR_001751263.1:n.999_1000del
XR_001751264.1:n.1040_1041del
NM_001159508.3:c.550_551del	NP_001152980.2:p.Ala184CysfsTer21
NM_001354597.3:c.592_593del	NP_001341526.1:p.Ala198CysfsTer21
NM_001354598.3:c.640_641del	NP_001341527.2:p.Ala214CysfsTer21
NM_001354599.3:c.727_728del	NP_001341528.2:p.Ala243CysfsTer21
NM_001354600.3:c.727_728del	NP_001341529.2:p.Ala243CysfsTer21
NM_001354601.3:c.640_641del	NP_001341530.2:p.Ala214CysfsTer21
NM_002225.5:c.640_641del MANE Select	NP_002216.3:p.Ala214CysfsTer21
NR_148925.2:n.1052_1053del