Canonical Allele Identifier: CA2575679083
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407994_40407995dup , CM000677.2:g.40407994_40407995dup GRCh38
NC_000015.9:g.40700193_40700194dup , CM000677.1:g.40700193_40700194dup GRCh37
NC_000015.8:g.38487485_38487486dup NCBI36
NG_011986.1:g.7508_7509dup
NG_011986.2:g.7510_7511dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.196+4_196+5dup ENSP00000417990.3:n.196+4_196+5dup
ENST00000487418.8:c.286+4_286+5dup MANE Select ENSP00000418397.3:n.286+4_286+5dup
ENST00000610693.5:c.373+4_373+5dup ENSP00000479359.2:n.373+4_373+5dup
ENST00000650656.1:c.205+4_205+5dup ENSP00000498731.1:n.205+4_205+5dup
ENST00000651168.1:c.295+4_295+5dup ENSP00000499074.1:n.295+4_295+5dup
ENST00000473112.6:c.45+4_45+5dup
ENST00000479013.6:c.205+4_205+5dup ENSP00000417990.2:n.205+4_205+5dup
ENST00000487418.6:c.295+4_295+5dup ENSP00000418397.2:n.295+4_295+5dup
ENST00000558610.5:c.238+4_238+5dup ENSP00000453821.1:n.238+4_238+5dup
ENST00000610693.4:c.382+4_382+5dup ENSP00000479359.1:n.382+4_382+5dup
NM_001159508.1:c.205+4_205+5dup NP_001152980.1:n.205+4_205+5dup
NM_002225.3:c.295+4_295+5dup NP_002216.2:n.295+4_295+5dup
XM_005254350.2:c.295+4_295+5dup XP_005254407.1:n.295+4_295+5dup
XM_005254356.2:c.295+4_295+5dup XP_005254413.1:n.295+4_295+5dup
XM_006720491.2:c.238+4_238+5dup XP_006720554.1:n.238+4_238+5dup
XM_006720492.2:c.295+4_295+5dup XP_006720555.1:n.295+4_295+5dup
XM_006720493.2:c.295+4_295+5dup XP_006720556.1:n.295+4_295+5dup
XM_006720494.2:c.295+4_295+5dup XP_006720557.1:n.295+4_295+5dup
XM_006720495.2:c.295+4_295+5dup XP_006720558.1:n.295+4_295+5dup
XM_011521523.1:c.295+4_295+5dup XP_011519825.1:n.295+4_295+5dup
XM_011521524.1:c.295+4_295+5dup XP_011519826.1:n.295+4_295+5dup
XR_243097.3:n.295+4_295+5dup
XR_243098.2:n.295+4_295+5dup
XR_429453.2:n.396+4_396+5dup
NM_001159508.2:c.196+4_196+5dup NP_001152980.2:n.196+4_196+5dup
NM_001354597.2:c.238+4_238+5dup NP_001341526.1:n.238+4_238+5dup
NM_001354598.2:c.286+4_286+5dup NP_001341527.2:n.286+4_286+5dup
NM_001354599.2:c.373+4_373+5dup NP_001341528.2:n.373+4_373+5dup
NM_001354600.2:c.373+4_373+5dup NP_001341529.2:n.373+4_373+5dup
NM_001354601.2:c.286+4_286+5dup NP_001341530.2:n.286+4_286+5dup
NM_002225.4:c.286+4_286+5dup NP_002216.3:n.286+4_286+5dup
NR_148925.1:n.696+4_696+5dup
XM_006720495.3:c.295+4_295+5dup XP_006720558.1:n.295+4_295+5dup
XM_017022149.1:c.382+4_382+5dup XP_016877638.1:n.382+4_382+5dup
XM_017022150.1:c.382+4_382+5dup XP_016877639.1:n.382+4_382+5dup
XM_017022153.1:c.382+4_382+5dup XP_016877642.1:n.382+4_382+5dup
XM_017022154.2:c.325+4_325+5dup XP_016877643.1:n.325+4_325+5dup
XM_017022155.2:c.382+4_382+5dup XP_016877644.1:n.382+4_382+5dup
XM_017022157.1:c.382+4_382+5dup XP_016877646.1:n.382+4_382+5dup
XM_017022158.2:c.382+4_382+5dup XP_016877647.1:n.382+4_382+5dup
XR_001751263.1:n.645+4_645+5dup
XR_001751264.1:n.686+4_686+5dup
NM_001159508.3:c.196+4_196+5dup NP_001152980.2:n.196+4_196+5dup
NM_001354597.3:c.238+4_238+5dup NP_001341526.1:n.238+4_238+5dup
NM_001354598.3:c.286+4_286+5dup NP_001341527.2:n.286+4_286+5dup
NM_001354599.3:c.373+4_373+5dup NP_001341528.2:n.373+4_373+5dup
NM_001354600.3:c.373+4_373+5dup NP_001341529.2:n.373+4_373+5dup
NM_001354601.3:c.286+4_286+5dup NP_001341530.2:n.286+4_286+5dup
NM_002225.5:c.286+4_286+5dup MANE Select NP_002216.3:n.286+4_286+5dup
NR_148925.2:n.698+4_698+5dup