Canonical Allele Identifier: CA2171764208
Gene: IVD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407823_40407825delinsCCT , CM000677.2:g.40407823_40407825delinsCCT GRCh38
NC_000015.9:g.40700022_40700024delinsCCT , CM000677.1:g.40700022_40700024delinsCCT GRCh37
NC_000015.8:g.38487314_38487316delinsCCT NCBI36
NG_011986.1:g.7337_7339delinsCCT
NG_011986.2:g.7339_7341delinsCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.145-116_145-114delinsCCT ENSP00000417990.3:n.145-116_145-114delins...
ENST00000487418.8:c.234+98_234+100delinsCCT MANE Select ENSP00000418397.3:n.234+98_234+100delinsC...
ENST00000610693.5:c.321+11_321+13delinsCCT ENSP00000479359.2:n.321+11_321+13delinsCC...
ENST00000650656.1:c.154-116_154-114delinsCCT ENSP00000498731.1:n.154-116_154-114delins...
ENST00000651168.1:c.243+98_243+100delinsCCT ENSP00000499074.1:n.243+98_243+100delinsC...
ENST00000479013.6:c.154-116_154-114delinsCCT ENSP00000417990.2:n.154-116_154-114delins...
ENST00000487418.6:c.243+98_243+100delinsCCT ENSP00000418397.2:n.243+98_243+100delinsC...
ENST00000558610.5:c.186+98_186+100delinsCCT ENSP00000453821.1:n.186+98_186+100delinsC...
ENST00000610693.4:c.330+11_330+13delinsCCT ENSP00000479359.1:n.330+11_330+13delinsCC...
NM_001159508.1:c.154-116_154-114delinsCCT NP_001152980.1:n.154-116_154-114delinsCCT...
NM_002225.3:c.243+98_243+100delinsCCT NP_002216.2:n.243+98_243+100delinsCCT
XM_005254350.2:c.243+98_243+100delinsCCT XP_005254407.1:n.243+98_243+100delinsCCT
XM_005254356.2:c.243+98_243+100delinsCCT XP_005254413.1:n.243+98_243+100delinsCCT
XM_006720491.2:c.186+98_186+100delinsCCT XP_006720554.1:n.186+98_186+100delinsCCT
XM_006720492.2:c.243+98_243+100delinsCCT XP_006720555.1:n.243+98_243+100delinsCCT
XM_006720493.2:c.243+98_243+100delinsCCT XP_006720556.1:n.243+98_243+100delinsCCT
XM_006720494.2:c.243+98_243+100delinsCCT XP_006720557.1:n.243+98_243+100delinsCCT
XM_006720495.2:c.243+98_243+100delinsCCT XP_006720558.1:n.243+98_243+100delinsCCT
XM_011521523.1:c.243+98_243+100delinsCCT XP_011519825.1:n.243+98_243+100delinsCCT
XM_011521524.1:c.243+98_243+100delinsCCT XP_011519826.1:n.243+98_243+100delinsCCT
XR_243097.3:n.243+98_243+100delinsCCT
XR_243098.2:n.243+98_243+100delinsCCT
XR_429453.2:n.344+98_344+100delinsCCT
NM_001159508.2:c.145-116_145-114delinsCCT NP_001152980.2:n.145-116_145-114delinsCCT...
NM_001354597.2:c.186+98_186+100delinsCCT NP_001341526.1:n.186+98_186+100delinsCCT
NM_001354598.2:c.234+98_234+100delinsCCT NP_001341527.2:n.234+98_234+100delinsCCT
NM_001354599.2:c.321+11_321+13delinsCCT NP_001341528.2:n.321+11_321+13delinsCCT
NM_001354600.2:c.321+11_321+13delinsCCT NP_001341529.2:n.321+11_321+13delinsCCT
NM_001354601.2:c.234+98_234+100delinsCCT NP_001341530.2:n.234+98_234+100delinsCCT
NM_002225.4:c.234+98_234+100delinsCCT NP_002216.3:n.234+98_234+100delinsCCT
NR_148925.1:n.644+98_644+100delinsCCT
XM_006720495.3:c.243+98_243+100delinsCCT XP_006720558.1:n.243+98_243+100delinsCCT
XM_017022149.1:c.330+11_330+13delinsCCT XP_016877638.1:n.330+11_330+13delinsCCT
XM_017022150.1:c.330+11_330+13delinsCCT XP_016877639.1:n.330+11_330+13delinsCCT
XM_017022153.1:c.330+11_330+13delinsCCT XP_016877642.1:n.330+11_330+13delinsCCT
XM_017022154.2:c.273+11_273+13delinsCCT XP_016877643.1:n.273+11_273+13delinsCCT
XM_017022155.2:c.330+11_330+13delinsCCT XP_016877644.1:n.330+11_330+13delinsCCT
XM_017022157.1:c.330+11_330+13delinsCCT XP_016877646.1:n.330+11_330+13delinsCCT
XM_017022158.2:c.330+11_330+13delinsCCT XP_016877647.1:n.330+11_330+13delinsCCT
XR_001751263.1:n.593+98_593+100delinsCCT
XR_001751264.1:n.634+98_634+100delinsCCT
NM_001159508.3:c.145-116_145-114delinsCCT NP_001152980.2:n.145-116_145-114delinsCCT...
NM_001354597.3:c.186+98_186+100delinsCCT NP_001341526.1:n.186+98_186+100delinsCCT
NM_001354598.3:c.234+98_234+100delinsCCT NP_001341527.2:n.234+98_234+100delinsCCT
NM_001354599.3:c.321+11_321+13delinsCCT NP_001341528.2:n.321+11_321+13delinsCCT
NM_001354600.3:c.321+11_321+13delinsCCT NP_001341529.2:n.321+11_321+13delinsCCT
NM_001354601.3:c.234+98_234+100delinsCCT NP_001341530.2:n.234+98_234+100delinsCCT
NM_002225.5:c.234+98_234+100delinsCCT MANE Select NP_002216.3:n.234+98_234+100delinsCCT
NR_148925.2:n.646+98_646+100delinsCCT