Canonical Allele Identifier: CA2785410059
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928082_104928086del , CM000671.2:g.104928082_104928086del GRCh38
NC_000009.11:g.107690363_107690367del , CM000671.1:g.107690363_107690367del GRCh37
NC_000009.10:g.106730184_106730188del NCBI36
NG_007981.1:g.5078_5082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.-236_-232del MANE Select ENSP00000363868.3:n.-236_-232del
ENST00000678995.1:c.-236_-232del ENSP00000504612.1:n.-236_-232del
ENST00000374733.1:c.-258_-254del ENSP00000363865.1:n.-258_-254del
ENST00000374736.7:c.-236_-232del ENSP00000363868.3:n.-236_-232del
ENST00000423487.6:c.-236_-232del ENSP00000416623.2:n.-236_-232del
NM_005502.3:c.-236_-232del NP_005493.2:n.-236_-232del
XM_005251773.1:c.-236_-232del XP_005251830.1:n.-236_-232del
XM_005251776.1:c.-258_-254del XP_005251833.1:n.-258_-254del
XM_011518339.1:c.-236_-232del XP_011516641.1:n.-236_-232del
XM_011518341.1:c.-236_-232del XP_011516643.1:n.-236_-232del
XM_011518342.1:c.-299_-295del XP_011516644.1:n.-299_-295del
XM_011518343.1:c.-236_-232del XP_011516645.1:n.-236_-232del
XM_011518344.1:c.-236_-232del XP_011516646.1:n.-236_-232del
XR_930204.1:n.734+172_734+176del
XM_005251773.3:c.-236_-232del XP_005251830.1:n.-236_-232del
XM_005251776.3:c.-258_-254del XP_005251833.1:n.-258_-254del
XM_011518339.3:c.-236_-232del XP_011516641.1:n.-236_-232del
XM_011518341.3:c.-236_-232del XP_011516643.1:n.-236_-232del
XM_011518342.3:c.-299_-295del XP_011516644.1:n.-299_-295del
XM_011518344.2:c.-236_-232del XP_011516646.1:n.-236_-232del
XR_001746223.1:n.78_82del
XR_930204.2:n.115+172_115+176del
NM_005502.4:c.-236_-232del MANE Select NP_005493.2:n.-236_-232del