Canonical Allele Identifier: CA2171765971
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411653_40411671delinsCCAGCTTCTCGGGGCATCA , CM000677.2:g.40411653_40411671delinsCCAGCTTCTCGGGGCATCA GRCh38
NC_000015.9:g.40703852_40703870delinsCCAGCTTCTCGGGGCATCA , CM000677.1:g.40703852_40703870delinsCCAGCTTCTCGGGGCATCA GRCh37
NC_000015.8:g.38491144_38491162delinsCCAGCTTCTCGGGGCATCA NCBI36
NG_011986.1:g.11167_11185delinsCCAGCTTCTCGGGGCATCA
NG_011986.2:g.11169_11187delinsCCAGCTTCTCGGGGCATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.559_577delinsCCAGCTTCTCGGGGCATCA ENSP00000417990.3:p.Pro187=
ENST00000487418.8:c.649_667delinsCCAGCTTCTCGGGGCATCA MANE Select ENSP00000418397.3:p.Pro217=
ENST00000650656.1:c.568_586delinsCCAGCTTCTCGGGGCATCA ENSP00000498731.1:p.Pro190=
ENST00000651168.1:c.658_676delinsCCAGCTTCTCGGGGCATCA ENSP00000499074.1:p.Pro220=
ENST00000473112.6:c.408_426delinsCCAGCTTCTCGGGGCATCA
ENST00000479013.6:c.568_586delinsCCAGCTTCTCGGGGCATCA ENSP00000417990.2:p.Pro190=
ENST00000481262.6:c.255_273delinsCCAGCTTCTCGGGGCATCA
ENST00000484250.1:n.272_290delinsCCAGCTTCTCGGGGCATCA
ENST00000487418.6:c.658_676delinsCCAGCTTCTCGGGGCATCA ENSP00000418397.2:p.Pro220=
ENST00000491554.6:c.46_64delinsCCAGCTTCTCGGGGCATCA ENSP00000453146.1:p.Pro16=
ENST00000558610.5:c.601_619delinsCCAGCTTCTCGGGGCATCA ENSP00000453821.1:p.Pro201=
NM_001159508.1:c.568_586delinsCCAGCTTCTCGGGGCATCA NP_001152980.1:p.Pro190=
NM_002225.3:c.658_676delinsCCAGCTTCTCGGGGCATCA NP_002216.2:p.Pro220=
XM_005254350.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_005254407.1:p.Pro220=
XM_005254356.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_005254413.1:p.Pro220=
XM_006720491.2:c.601_619delinsCCAGCTTCTCGGGGCATCA XP_006720554.1:p.Pro201=
XM_006720492.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_006720555.1:p.Pro220=
XM_006720493.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_006720556.1:p.Pro220=
XM_006720494.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_006720557.1:p.Pro220=
XM_006720495.2:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_006720558.1:p.Pro220=
XM_011521523.1:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_011519825.1:p.Pro220=
XM_011521524.1:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_011519826.1:p.Pro220=
XR_243097.3:n.658_676delinsCCAGCTTCTCGGGGCATCA
XR_243098.2:n.658_676delinsCCAGCTTCTCGGGGCATCA
XR_429453.2:n.759_777delinsCCAGCTTCTCGGGGCATCA
NM_001159508.2:c.559_577delinsCCAGCTTCTCGGGGCATCA NP_001152980.2:p.Pro187=
NM_001354597.2:c.601_619delinsCCAGCTTCTCGGGGCATCA NP_001341526.1:p.Pro201=
NM_001354598.2:c.649_667delinsCCAGCTTCTCGGGGCATCA NP_001341527.2:p.Pro217=
NM_001354599.2:c.736_754delinsCCAGCTTCTCGGGGCATCA NP_001341528.2:p.Pro246=
NM_001354600.2:c.736_754delinsCCAGCTTCTCGGGGCATCA NP_001341529.2:p.Pro246=
NM_001354601.2:c.649_667delinsCCAGCTTCTCGGGGCATCA NP_001341530.2:p.Pro217=
NM_002225.4:c.649_667delinsCCAGCTTCTCGGGGCATCA NP_002216.3:p.Pro217=
NR_148925.1:n.1059_1077delinsCCAGCTTCTCGGGGCATCA
XM_006720495.3:c.658_676delinsCCAGCTTCTCGGGGCATCA XP_006720558.1:p.Pro220=
XM_017022149.1:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877638.1:p.Pro249=
XM_017022150.1:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877639.1:p.Pro249=
XM_017022153.1:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877642.1:p.Pro249=
XM_017022154.2:c.688_706delinsCCAGCTTCTCGGGGCATCA XP_016877643.1:p.Pro230=
XM_017022155.2:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877644.1:p.Pro249=
XM_017022157.1:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877646.1:p.Pro249=
XM_017022158.2:c.745_763delinsCCAGCTTCTCGGGGCATCA XP_016877647.1:p.Pro249=
XR_001751263.1:n.1008_1026delinsCCAGCTTCTCGGGGCATCA
XR_001751264.1:n.1049_1067delinsCCAGCTTCTCGGGGCATCA
NM_001159508.3:c.559_577delinsCCAGCTTCTCGGGGCATCA NP_001152980.2:p.Pro187=
NM_001354597.3:c.601_619delinsCCAGCTTCTCGGGGCATCA NP_001341526.1:p.Pro201=
NM_001354598.3:c.649_667delinsCCAGCTTCTCGGGGCATCA NP_001341527.2:p.Pro217=
NM_001354599.3:c.736_754delinsCCAGCTTCTCGGGGCATCA NP_001341528.2:p.Pro246=
NM_001354600.3:c.736_754delinsCCAGCTTCTCGGGGCATCA NP_001341529.2:p.Pro246=
NM_001354601.3:c.649_667delinsCCAGCTTCTCGGGGCATCA NP_001341530.2:p.Pro217=
NM_002225.5:c.649_667delinsCCAGCTTCTCGGGGCATCA MANE Select NP_002216.3:p.Pro217=
NR_148925.2:n.1061_1079delinsCCAGCTTCTCGGGGCATCA