Canonical Allele Identifier: CA617237427
Gene: IVD HGNC NCBI

Linked Data

dbSNP Id: rs1566932254

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40407828_40407829del , CM000677.2:g.40407828_40407829del GRCh38
NC_000015.9:g.40700027_40700028del , CM000677.1:g.40700027_40700028del GRCh37
NC_000015.8:g.38487319_38487320del NCBI36
NG_011986.1:g.7342_7343del
NG_011986.2:g.7344_7345del

Transcript Alleles

HGVS Amino-acid change
ENST00000479013.7:c.145-111_145-110del ENSP00000417990.3:n.145-111_145-110del
ENST00000487418.8:c.234+103_234+104del MANE Select ENSP00000418397.3:n.234+103_234+104del
ENST00000610693.5:c.321+16_321+17del ENSP00000479359.2:n.321+16_321+17del
ENST00000650656.1:c.154-111_154-110del ENSP00000498731.1:n.154-111_154-110del
ENST00000651168.1:c.243+103_243+104del ENSP00000499074.1:n.243+103_243+104del
ENST00000479013.6:c.154-111_154-110del ENSP00000417990.2:n.154-111_154-110del
ENST00000487418.6:c.243+103_243+104del ENSP00000418397.2:n.243+103_243+104del
ENST00000558610.5:c.186+103_186+104del ENSP00000453821.1:n.186+103_186+104del
ENST00000610693.4:c.330+16_330+17del ENSP00000479359.1:n.330+16_330+17del
NM_001159508.1:c.154-111_154-110del NP_001152980.1:n.154-111_154-110del
NM_002225.3:c.243+103_243+104del NP_002216.2:n.243+103_243+104del
XM_005254350.2:c.243+103_243+104del XP_005254407.1:n.243+103_243+104del
XM_005254356.2:c.243+103_243+104del XP_005254413.1:n.243+103_243+104del
XM_006720491.2:c.186+103_186+104del XP_006720554.1:n.186+103_186+104del
XM_006720492.2:c.243+103_243+104del XP_006720555.1:n.243+103_243+104del
XM_006720493.2:c.243+103_243+104del XP_006720556.1:n.243+103_243+104del
XM_006720494.2:c.243+103_243+104del XP_006720557.1:n.243+103_243+104del
XM_006720495.2:c.243+103_243+104del XP_006720558.1:n.243+103_243+104del
XM_011521523.1:c.243+103_243+104del XP_011519825.1:n.243+103_243+104del
XM_011521524.1:c.243+103_243+104del XP_011519826.1:n.243+103_243+104del
XR_243097.3:n.243+103_243+104del
XR_243098.2:n.243+103_243+104del
XR_429453.2:n.344+103_344+104del
NM_001159508.2:c.145-111_145-110del NP_001152980.2:n.145-111_145-110del
NM_001354597.2:c.186+103_186+104del NP_001341526.1:n.186+103_186+104del
NM_001354598.2:c.234+103_234+104del NP_001341527.2:n.234+103_234+104del
NM_001354599.2:c.321+16_321+17del NP_001341528.2:n.321+16_321+17del
NM_001354600.2:c.321+16_321+17del NP_001341529.2:n.321+16_321+17del
NM_001354601.2:c.234+103_234+104del NP_001341530.2:n.234+103_234+104del
NM_002225.4:c.234+103_234+104del NP_002216.3:n.234+103_234+104del
NR_148925.1:n.644+103_644+104del
XM_006720495.3:c.243+103_243+104del XP_006720558.1:n.243+103_243+104del
XM_017022149.1:c.330+16_330+17del XP_016877638.1:n.330+16_330+17del
XM_017022150.1:c.330+16_330+17del XP_016877639.1:n.330+16_330+17del
XM_017022153.1:c.330+16_330+17del XP_016877642.1:n.330+16_330+17del
XM_017022154.2:c.273+16_273+17del XP_016877643.1:n.273+16_273+17del
XM_017022155.2:c.330+16_330+17del XP_016877644.1:n.330+16_330+17del
XM_017022157.1:c.330+16_330+17del XP_016877646.1:n.330+16_330+17del
XM_017022158.2:c.330+16_330+17del XP_016877647.1:n.330+16_330+17del
XR_001751263.1:n.593+103_593+104del
XR_001751264.1:n.634+103_634+104del
NM_001159508.3:c.145-111_145-110del NP_001152980.2:n.145-111_145-110del
NM_001354597.3:c.186+103_186+104del NP_001341526.1:n.186+103_186+104del
NM_001354598.3:c.234+103_234+104del NP_001341527.2:n.234+103_234+104del
NM_001354599.3:c.321+16_321+17del NP_001341528.2:n.321+16_321+17del
NM_001354600.3:c.321+16_321+17del NP_001341529.2:n.321+16_321+17del
NM_001354601.3:c.234+103_234+104del NP_001341530.2:n.234+103_234+104del
NM_002225.5:c.234+103_234+104del MANE Select NP_002216.3:n.234+103_234+104del
NR_148925.2:n.646+103_646+104del