Canonical Allele Identifier: CA16041731
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40413047dup , CM000677.2:g.40413047dup GRCh38
NC_000015.9:g.40705246dup , CM000677.1:g.40705246dup GRCh37
NC_000015.8:g.38492538dup NCBI36
NG_011986.1:g.12561dup
NG_011986.2:g.12563dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.654dup ENSP00000417990.3:p.Asn219Ter
ENST00000487418.8:c.744dup MANE Select ENSP00000418397.3:p.Asn249Ter
ENST00000650656.1:c.663dup ENSP00000498731.1:p.Asn222Ter
ENST00000651168.1:c.753dup ENSP00000499074.1:p.Asn252Ter
ENST00000473112.6:c.503dup
ENST00000479013.6:c.663dup ENSP00000417990.2:p.Asn222Ter
ENST00000481262.6:c.350dup
ENST00000484250.1:n.367dup
ENST00000487418.6:c.753dup ENSP00000418397.2:p.Asn252Ter
ENST00000491554.6:c.141dup ENSP00000453146.1:p.Asn48Ter
ENST00000497252.5:n.125dup
NM_001159508.1:c.663dup NP_001152980.1:p.Asn222Ter
NM_002225.3:c.753dup NP_002216.2:p.Asn252Ter
XM_005254350.2:c.753dup XP_005254407.1:p.Asn252Ter
XM_005254356.2:c.753dup XP_005254413.1:p.Asn252Ter
XM_006720491.2:c.696dup XP_006720554.1:p.Asn233Ter
XM_006720492.2:c.753dup XP_006720555.1:p.Asn252Ter
XM_006720493.2:c.753dup XP_006720556.1:p.Asn252Ter
XM_006720494.2:c.753dup XP_006720557.1:p.Asn252Ter
XM_006720495.2:c.753dup XP_006720558.1:p.Asn252Ter
XM_011521523.1:c.753dup XP_011519825.1:p.Asn252Ter
XM_011521524.1:c.753dup XP_011519826.1:p.Asn252Ter
XR_243097.3:n.753dup
XR_243098.2:n.753dup
XR_429453.2:n.854dup
NM_001159508.2:c.654dup NP_001152980.2:p.Asn219Ter
NM_001354597.2:c.696dup NP_001341526.1:p.Asn233Ter
NM_001354598.2:c.744dup NP_001341527.2:p.Asn249Ter
NM_001354599.2:c.831dup NP_001341528.2:p.Asn278Ter
NM_001354600.2:c.831dup NP_001341529.2:p.Asn278Ter
NM_001354601.2:c.744dup NP_001341530.2:p.Asn249Ter
NM_002225.4:c.744dup NP_002216.3:p.Asn249Ter
NR_148925.1:n.1154dup
XM_006720495.3:c.753dup XP_006720558.1:p.Asn252Ter
XM_017022149.1:c.840dup XP_016877638.1:p.Asn281Ter
XM_017022150.1:c.840dup XP_016877639.1:p.Asn281Ter
XM_017022153.1:c.840dup XP_016877642.1:p.Asn281Ter
XM_017022154.2:c.783dup XP_016877643.1:p.Asn262Ter
XM_017022155.2:c.840dup XP_016877644.1:p.Asn281Ter
XM_017022157.1:c.840dup XP_016877646.1:p.Asn281Ter
XM_017022158.2:c.840dup XP_016877647.1:p.Asn281Ter
XR_001751263.1:n.1103dup
XR_001751264.1:n.1144dup
NM_001159508.3:c.654dup NP_001152980.2:p.Asn219Ter
NM_001354597.3:c.696dup NP_001341526.1:p.Asn233Ter
NM_001354598.3:c.744dup NP_001341527.2:p.Asn249Ter
NM_001354599.3:c.831dup NP_001341528.2:p.Asn278Ter
NM_001354600.3:c.831dup NP_001341529.2:p.Asn278Ter
NM_001354601.3:c.744dup NP_001341530.2:p.Asn249Ter
NM_002225.5:c.744dup MANE Select NP_002216.3:p.Asn249Ter
NR_148925.2:n.1156dup