Canonical Allele Identifier: CA2730848632

Gene: IVD

Linked Data

• dbSNP Id: rs2141331856

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411667del , CM000677.2:g.40411667del	GRCh38
NC_000015.9:g.40703866del , CM000677.1:g.40703866del	GRCh37
NC_000015.8:g.38491158del	NCBI36
NG_011986.1:g.11181del
NG_011986.2:g.11183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.573del	ENSP00000417990.3:p.Ile192SerfsTer24
ENST00000487418.8:c.663del MANE Select	ENSP00000418397.3:p.Ile222SerfsTer24
ENST00000650656.1:c.582del	ENSP00000498731.1:p.Ile195SerfsTer24
ENST00000651168.1:c.672del	ENSP00000499074.1:p.Ile225SerfsTer24
ENST00000473112.6:c.422del
ENST00000479013.6:c.582del	ENSP00000417990.2:p.Ile195SerfsTer24
ENST00000481262.6:c.269del
ENST00000484250.1:n.286del
ENST00000487418.6:c.672del	ENSP00000418397.2:p.Ile225SerfsTer24
ENST00000491554.6:c.60del	ENSP00000453146.1:p.Ile21SerfsTer24
ENST00000558610.5:c.615del	ENSP00000453821.1:p.Ile206SerfsTer?
NM_001159508.1:c.582del	NP_001152980.1:p.Ile195SerfsTer24
NM_002225.3:c.672del	NP_002216.2:p.Ile225SerfsTer24
XM_005254350.2:c.672del	XP_005254407.1:p.Ile225SerfsTer24
XM_005254356.2:c.672del	XP_005254413.1:p.Ile225SerfsTer24
XM_006720491.2:c.615del	XP_006720554.1:p.Ile206SerfsTer24
XM_006720492.2:c.672del	XP_006720555.1:p.Ile225SerfsTer24
XM_006720493.2:c.672del	XP_006720556.1:p.Ile225SerfsTer24
XM_006720494.2:c.672del	XP_006720557.1:p.Ile225SerfsTer24
XM_006720495.2:c.672del	XP_006720558.1:p.Ile225SerfsTer24
XM_011521523.1:c.672del	XP_011519825.1:p.Ile225SerfsTer24
XM_011521524.1:c.672del	XP_011519826.1:p.Ile225SerfsTer24
XR_243097.3:n.672del
XR_243098.2:n.672del
XR_429453.2:n.773del
NM_001159508.2:c.573del	NP_001152980.2:p.Ile192SerfsTer24
NM_001354597.2:c.615del	NP_001341526.1:p.Ile206SerfsTer24
NM_001354598.2:c.663del	NP_001341527.2:p.Ile222SerfsTer24
NM_001354599.2:c.750del	NP_001341528.2:p.Ile251SerfsTer24
NM_001354600.2:c.750del	NP_001341529.2:p.Ile251SerfsTer24
NM_001354601.2:c.663del	NP_001341530.2:p.Ile222SerfsTer24
NM_002225.4:c.663del	NP_002216.3:p.Ile222SerfsTer24
NR_148925.1:n.1073del
XM_006720495.3:c.672del	XP_006720558.1:p.Ile225SerfsTer24
XM_017022149.1:c.759del	XP_016877638.1:p.Ile254SerfsTer24
XM_017022150.1:c.759del	XP_016877639.1:p.Ile254SerfsTer24
XM_017022153.1:c.759del	XP_016877642.1:p.Ile254SerfsTer24
XM_017022154.2:c.702del	XP_016877643.1:p.Ile235SerfsTer24
XM_017022155.2:c.759del	XP_016877644.1:p.Ile254SerfsTer24
XM_017022157.1:c.759del	XP_016877646.1:p.Ile254SerfsTer24
XM_017022158.2:c.759del	XP_016877647.1:p.Ile254SerfsTer24
XR_001751263.1:n.1022del
XR_001751264.1:n.1063del
NM_001159508.3:c.573del	NP_001152980.2:p.Ile192SerfsTer24
NM_001354597.3:c.615del	NP_001341526.1:p.Ile206SerfsTer24
NM_001354598.3:c.663del	NP_001341527.2:p.Ile222SerfsTer24
NM_001354599.3:c.750del	NP_001341528.2:p.Ile251SerfsTer24
NM_001354600.3:c.750del	NP_001341529.2:p.Ile251SerfsTer24
NM_001354601.3:c.663del	NP_001341530.2:p.Ile222SerfsTer24
NM_002225.5:c.663del MANE Select	NP_002216.3:p.Ile222SerfsTer24
NR_148925.2:n.1075del