Canonical Allele Identifier: CA2627815087
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411458_40411461del , CM000677.2:g.40411458_40411461del GRCh38
NC_000015.9:g.40703657_40703660del , CM000677.1:g.40703657_40703660del GRCh37
NC_000015.8:g.38490949_38490952del NCBI36
NG_011986.1:g.10972_10975del
NG_011986.2:g.10974_10977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.461-97_461-94del ENSP00000417990.3:n.461-97_461-94del
ENST00000487418.8:c.551-97_551-94del MANE Select ENSP00000418397.3:n.551-97_551-94del
ENST00000650656.1:c.470-97_470-94del ENSP00000498731.1:n.470-97_470-94del
ENST00000651168.1:c.560-97_560-94del ENSP00000499074.1:n.560-97_560-94del
ENST00000473112.6:c.310-97_310-94del
ENST00000479013.6:c.470-97_470-94del ENSP00000417990.2:n.470-97_470-94del
ENST00000481262.6:c.157-97_157-94del
ENST00000484250.1:n.174-97_174-94del
ENST00000487418.6:c.560-97_560-94del ENSP00000418397.2:n.560-97_560-94del
ENST00000558610.5:c.503-97_503-94del ENSP00000453821.1:n.503-97_503-94del
NM_001159508.1:c.470-97_470-94del NP_001152980.1:n.470-97_470-94del
NM_002225.3:c.560-97_560-94del NP_002216.2:n.560-97_560-94del
XM_005254350.2:c.560-97_560-94del XP_005254407.1:n.560-97_560-94del
XM_005254356.2:c.560-97_560-94del XP_005254413.1:n.560-97_560-94del
XM_006720491.2:c.503-97_503-94del XP_006720554.1:n.503-97_503-94del
XM_006720492.2:c.560-97_560-94del XP_006720555.1:n.560-97_560-94del
XM_006720493.2:c.560-97_560-94del XP_006720556.1:n.560-97_560-94del
XM_006720494.2:c.560-97_560-94del XP_006720557.1:n.560-97_560-94del
XM_006720495.2:c.560-97_560-94del XP_006720558.1:n.560-97_560-94del
XM_011521523.1:c.560-97_560-94del XP_011519825.1:n.560-97_560-94del
XM_011521524.1:c.560-97_560-94del XP_011519826.1:n.560-97_560-94del
XR_243097.3:n.560-97_560-94del
XR_243098.2:n.560-97_560-94del
XR_429453.2:n.661-97_661-94del
NM_001159508.2:c.461-97_461-94del NP_001152980.2:n.461-97_461-94del
NM_001354597.2:c.503-97_503-94del NP_001341526.1:n.503-97_503-94del
NM_001354598.2:c.551-97_551-94del NP_001341527.2:n.551-97_551-94del
NM_001354599.2:c.638-97_638-94del NP_001341528.2:n.638-97_638-94del
NM_001354600.2:c.638-97_638-94del NP_001341529.2:n.638-97_638-94del
NM_001354601.2:c.551-97_551-94del NP_001341530.2:n.551-97_551-94del
NM_002225.4:c.551-97_551-94del NP_002216.3:n.551-97_551-94del
NR_148925.1:n.961-97_961-94del
XM_006720495.3:c.560-97_560-94del XP_006720558.1:n.560-97_560-94del
XM_017022149.1:c.647-97_647-94del XP_016877638.1:n.647-97_647-94del
XM_017022150.1:c.647-97_647-94del XP_016877639.1:n.647-97_647-94del
XM_017022153.1:c.647-97_647-94del XP_016877642.1:n.647-97_647-94del
XM_017022154.2:c.590-97_590-94del XP_016877643.1:n.590-97_590-94del
XM_017022155.2:c.647-97_647-94del XP_016877644.1:n.647-97_647-94del
XM_017022157.1:c.647-97_647-94del XP_016877646.1:n.647-97_647-94del
XM_017022158.2:c.647-97_647-94del XP_016877647.1:n.647-97_647-94del
XR_001751263.1:n.910-97_910-94del
XR_001751264.1:n.951-97_951-94del
NM_001159508.3:c.461-97_461-94del NP_001152980.2:n.461-97_461-94del
NM_001354597.3:c.503-97_503-94del NP_001341526.1:n.503-97_503-94del
NM_001354598.3:c.551-97_551-94del NP_001341527.2:n.551-97_551-94del
NM_001354599.3:c.638-97_638-94del NP_001341528.2:n.638-97_638-94del
NM_001354600.3:c.638-97_638-94del NP_001341529.2:n.638-97_638-94del
NM_001354601.3:c.551-97_551-94del NP_001341530.2:n.551-97_551-94del
NM_002225.5:c.551-97_551-94del MANE Select NP_002216.3:n.551-97_551-94del
NR_148925.2:n.963-97_963-94del