Canonical Allele Identifier: CA2580089369

Gene: IVD

Linked Data

• ClinVar Variation Id: 1723958
• ClinVar RCV Id: RCV002306513

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411638_40411639del , CM000677.2:g.40411638_40411639del	GRCh38
NC_000015.9:g.40703837_40703838del , CM000677.1:g.40703837_40703838del	GRCh37
NC_000015.8:g.38491129_38491130del	NCBI36
NG_011986.1:g.11152_11153del
NG_011986.2:g.11154_11155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.544_545del	ENSP00000417990.3:p.Asp182SerfsTer23
ENST00000487418.8:c.634_635del MANE Select	ENSP00000418397.3:p.Asp212SerfsTer23
ENST00000650656.1:c.553_554del	ENSP00000498731.1:p.Asp185SerfsTer23
ENST00000651168.1:c.643_644del	ENSP00000499074.1:p.Asp215SerfsTer23
ENST00000473112.6:c.393_394del
ENST00000479013.6:c.553_554del	ENSP00000417990.2:p.Asp185SerfsTer23
ENST00000481262.6:c.240_241del
ENST00000484250.1:n.257_258del
ENST00000487418.6:c.643_644del	ENSP00000418397.2:p.Asp215SerfsTer23
ENST00000491554.6:c.31_32del	ENSP00000453146.1:p.Asp11SerfsTer23
ENST00000558610.5:c.586_587del	ENSP00000453821.1:p.Asp196SerfsTer?
NM_001159508.1:c.553_554del	NP_001152980.1:p.Asp185SerfsTer23
NM_002225.3:c.643_644del	NP_002216.2:p.Asp215SerfsTer23
XM_005254350.2:c.643_644del	XP_005254407.1:p.Asp215SerfsTer23
XM_005254356.2:c.643_644del	XP_005254413.1:p.Asp215SerfsTer23
XM_006720491.2:c.586_587del	XP_006720554.1:p.Asp196SerfsTer23
XM_006720492.2:c.643_644del	XP_006720555.1:p.Asp215SerfsTer23
XM_006720493.2:c.643_644del	XP_006720556.1:p.Asp215SerfsTer23
XM_006720494.2:c.643_644del	XP_006720557.1:p.Asp215SerfsTer23
XM_006720495.2:c.643_644del	XP_006720558.1:p.Asp215SerfsTer23
XM_011521523.1:c.643_644del	XP_011519825.1:p.Asp215SerfsTer23
XM_011521524.1:c.643_644del	XP_011519826.1:p.Asp215SerfsTer23
XR_243097.3:n.643_644del
XR_243098.2:n.643_644del
XR_429453.2:n.744_745del
NM_001159508.2:c.544_545del	NP_001152980.2:p.Asp182SerfsTer23
NM_001354597.2:c.586_587del	NP_001341526.1:p.Asp196SerfsTer23
NM_001354598.2:c.634_635del	NP_001341527.2:p.Asp212SerfsTer23
NM_001354599.2:c.721_722del	NP_001341528.2:p.Asp241SerfsTer23
NM_001354600.2:c.721_722del	NP_001341529.2:p.Asp241SerfsTer23
NM_001354601.2:c.634_635del	NP_001341530.2:p.Asp212SerfsTer23
NM_002225.4:c.634_635del	NP_002216.3:p.Asp212SerfsTer23
NR_148925.1:n.1044_1045del
XM_006720495.3:c.643_644del	XP_006720558.1:p.Asp215SerfsTer23
XM_017022149.1:c.730_731del	XP_016877638.1:p.Asp244SerfsTer23
XM_017022150.1:c.730_731del	XP_016877639.1:p.Asp244SerfsTer23
XM_017022153.1:c.730_731del	XP_016877642.1:p.Asp244SerfsTer23
XM_017022154.2:c.673_674del	XP_016877643.1:p.Asp225SerfsTer23
XM_017022155.2:c.730_731del	XP_016877644.1:p.Asp244SerfsTer23
XM_017022157.1:c.730_731del	XP_016877646.1:p.Asp244SerfsTer23
XM_017022158.2:c.730_731del	XP_016877647.1:p.Asp244SerfsTer23
XR_001751263.1:n.993_994del
XR_001751264.1:n.1034_1035del
NM_001159508.3:c.544_545del	NP_001152980.2:p.Asp182SerfsTer23
NM_001354597.3:c.586_587del	NP_001341526.1:p.Asp196SerfsTer23
NM_001354598.3:c.634_635del	NP_001341527.2:p.Asp212SerfsTer23
NM_001354599.3:c.721_722del	NP_001341528.2:p.Asp241SerfsTer23
NM_001354600.3:c.721_722del	NP_001341529.2:p.Asp241SerfsTer23
NM_001354601.3:c.634_635del	NP_001341530.2:p.Asp212SerfsTer23
NM_002225.5:c.634_635del MANE Select	NP_002216.3:p.Asp212SerfsTer23
NR_148925.2:n.1046_1047del