Canonical Allele Identifier: CA2171765957

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411620_40411621delinsAT , CM000677.2:g.40411620_40411621delinsAT	GRCh38
NC_000015.9:g.40703819_40703820delinsAT , CM000677.1:g.40703819_40703820delinsAT	GRCh37
NC_000015.8:g.38491111_38491112delinsAT	NCBI36
NG_011986.1:g.11134_11135delinsAT
NG_011986.2:g.11136_11137delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.526_527delinsAT	ENSP00000417990.3:p.Ile176=
ENST00000487418.8:c.616_617delinsAT MANE Select	ENSP00000418397.3:p.Ile206=
ENST00000650656.1:c.535_536delinsAT	ENSP00000498731.1:p.Ile179=
ENST00000651168.1:c.625_626delinsAT	ENSP00000499074.1:p.Ile209=
ENST00000473112.6:c.375_376delinsAT
ENST00000479013.6:c.535_536delinsAT	ENSP00000417990.2:p.Ile179=
ENST00000481262.6:c.222_223delinsAT
ENST00000484250.1:n.239_240delinsAT
ENST00000487418.6:c.625_626delinsAT	ENSP00000418397.2:p.Ile209=
ENST00000491554.6:c.13_14delinsAT	ENSP00000453146.1:p.Ile5=
ENST00000558610.5:c.568_569delinsAT	ENSP00000453821.1:p.Ile190=
NM_001159508.1:c.535_536delinsAT	NP_001152980.1:p.Ile179=
NM_002225.3:c.625_626delinsAT	NP_002216.2:p.Ile209=
XM_005254350.2:c.625_626delinsAT	XP_005254407.1:p.Ile209=
XM_005254356.2:c.625_626delinsAT	XP_005254413.1:p.Ile209=
XM_006720491.2:c.568_569delinsAT	XP_006720554.1:p.Ile190=
XM_006720492.2:c.625_626delinsAT	XP_006720555.1:p.Ile209=
XM_006720493.2:c.625_626delinsAT	XP_006720556.1:p.Ile209=
XM_006720494.2:c.625_626delinsAT	XP_006720557.1:p.Ile209=
XM_006720495.2:c.625_626delinsAT	XP_006720558.1:p.Ile209=
XM_011521523.1:c.625_626delinsAT	XP_011519825.1:p.Ile209=
XM_011521524.1:c.625_626delinsAT	XP_011519826.1:p.Ile209=
XR_243097.3:n.625_626delinsAT
XR_243098.2:n.625_626delinsAT
XR_429453.2:n.726_727delinsAT
NM_001159508.2:c.526_527delinsAT	NP_001152980.2:p.Ile176=
NM_001354597.2:c.568_569delinsAT	NP_001341526.1:p.Ile190=
NM_001354598.2:c.616_617delinsAT	NP_001341527.2:p.Ile206=
NM_001354599.2:c.703_704delinsAT	NP_001341528.2:p.Ile235=
NM_001354600.2:c.703_704delinsAT	NP_001341529.2:p.Ile235=
NM_001354601.2:c.616_617delinsAT	NP_001341530.2:p.Ile206=
NM_002225.4:c.616_617delinsAT	NP_002216.3:p.Ile206=
NR_148925.1:n.1026_1027delinsAT
XM_006720495.3:c.625_626delinsAT	XP_006720558.1:p.Ile209=
XM_017022149.1:c.712_713delinsAT	XP_016877638.1:p.Ile238=
XM_017022150.1:c.712_713delinsAT	XP_016877639.1:p.Ile238=
XM_017022153.1:c.712_713delinsAT	XP_016877642.1:p.Ile238=
XM_017022154.2:c.655_656delinsAT	XP_016877643.1:p.Ile219=
XM_017022155.2:c.712_713delinsAT	XP_016877644.1:p.Ile238=
XM_017022157.1:c.712_713delinsAT	XP_016877646.1:p.Ile238=
XM_017022158.2:c.712_713delinsAT	XP_016877647.1:p.Ile238=
XR_001751263.1:n.975_976delinsAT
XR_001751264.1:n.1016_1017delinsAT
NM_001159508.3:c.526_527delinsAT	NP_001152980.2:p.Ile176=
NM_001354597.3:c.568_569delinsAT	NP_001341526.1:p.Ile190=
NM_001354598.3:c.616_617delinsAT	NP_001341527.2:p.Ile206=
NM_001354599.3:c.703_704delinsAT	NP_001341528.2:p.Ile235=
NM_001354600.3:c.703_704delinsAT	NP_001341529.2:p.Ile235=
NM_001354601.3:c.616_617delinsAT	NP_001341530.2:p.Ile206=
NM_002225.5:c.616_617delinsAT MANE Select	NP_002216.3:p.Ile206=
NR_148925.2:n.1028_1029delinsAT