Canonical Allele Identifier: CA2171765970

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411652_40411653delinsGC , CM000677.2:g.40411652_40411653delinsGC	GRCh38
NC_000015.9:g.40703851_40703852delinsGC , CM000677.1:g.40703851_40703852delinsGC	GRCh37
NC_000015.8:g.38491143_38491144delinsGC	NCBI36
NG_011986.1:g.11166_11167delinsGC
NG_011986.2:g.11168_11169delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.558_559delinsGC	ENSP00000417990.3:p.Val186=
ENST00000487418.8:c.648_649delinsGC MANE Select	ENSP00000418397.3:p.Val216=
ENST00000650656.1:c.567_568delinsGC	ENSP00000498731.1:p.Val189=
ENST00000651168.1:c.657_658delinsGC	ENSP00000499074.1:p.Val219=
ENST00000473112.6:c.407_408delinsGC
ENST00000479013.6:c.567_568delinsGC	ENSP00000417990.2:p.Val189=
ENST00000481262.6:c.254_255delinsGC
ENST00000484250.1:n.271_272delinsGC
ENST00000487418.6:c.657_658delinsGC	ENSP00000418397.2:p.Val219=
ENST00000491554.6:c.45_46delinsGC	ENSP00000453146.1:p.Val15=
ENST00000558610.5:c.600_601delinsGC	ENSP00000453821.1:p.Val200=
NM_001159508.1:c.567_568delinsGC	NP_001152980.1:p.Val189=
NM_002225.3:c.657_658delinsGC	NP_002216.2:p.Val219=
XM_005254350.2:c.657_658delinsGC	XP_005254407.1:p.Val219=
XM_005254356.2:c.657_658delinsGC	XP_005254413.1:p.Val219=
XM_006720491.2:c.600_601delinsGC	XP_006720554.1:p.Val200=
XM_006720492.2:c.657_658delinsGC	XP_006720555.1:p.Val219=
XM_006720493.2:c.657_658delinsGC	XP_006720556.1:p.Val219=
XM_006720494.2:c.657_658delinsGC	XP_006720557.1:p.Val219=
XM_006720495.2:c.657_658delinsGC	XP_006720558.1:p.Val219=
XM_011521523.1:c.657_658delinsGC	XP_011519825.1:p.Val219=
XM_011521524.1:c.657_658delinsGC	XP_011519826.1:p.Val219=
XR_243097.3:n.657_658delinsGC
XR_243098.2:n.657_658delinsGC
XR_429453.2:n.758_759delinsGC
NM_001159508.2:c.558_559delinsGC	NP_001152980.2:p.Val186=
NM_001354597.2:c.600_601delinsGC	NP_001341526.1:p.Val200=
NM_001354598.2:c.648_649delinsGC	NP_001341527.2:p.Val216=
NM_001354599.2:c.735_736delinsGC	NP_001341528.2:p.Val245=
NM_001354600.2:c.735_736delinsGC	NP_001341529.2:p.Val245=
NM_001354601.2:c.648_649delinsGC	NP_001341530.2:p.Val216=
NM_002225.4:c.648_649delinsGC	NP_002216.3:p.Val216=
NR_148925.1:n.1058_1059delinsGC
XM_006720495.3:c.657_658delinsGC	XP_006720558.1:p.Val219=
XM_017022149.1:c.744_745delinsGC	XP_016877638.1:p.Val248=
XM_017022150.1:c.744_745delinsGC	XP_016877639.1:p.Val248=
XM_017022153.1:c.744_745delinsGC	XP_016877642.1:p.Val248=
XM_017022154.2:c.687_688delinsGC	XP_016877643.1:p.Val229=
XM_017022155.2:c.744_745delinsGC	XP_016877644.1:p.Val248=
XM_017022157.1:c.744_745delinsGC	XP_016877646.1:p.Val248=
XM_017022158.2:c.744_745delinsGC	XP_016877647.1:p.Val248=
XR_001751263.1:n.1007_1008delinsGC
XR_001751264.1:n.1048_1049delinsGC
NM_001159508.3:c.558_559delinsGC	NP_001152980.2:p.Val186=
NM_001354597.3:c.600_601delinsGC	NP_001341526.1:p.Val200=
NM_001354598.3:c.648_649delinsGC	NP_001341527.2:p.Val216=
NM_001354599.3:c.735_736delinsGC	NP_001341528.2:p.Val245=
NM_001354600.3:c.735_736delinsGC	NP_001341529.2:p.Val245=
NM_001354601.3:c.648_649delinsGC	NP_001341530.2:p.Val216=
NM_002225.5:c.648_649delinsGC MANE Select	NP_002216.3:p.Val216=
NR_148925.2:n.1060_1061delinsGC