Canonical Allele Identifier: CA10628656
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364350
dbSNP Id: rs200463326

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104782865del , CM000671.2:g.104782865del GRCh38
NC_000009.11:g.107545146del , CM000671.1:g.107545146del GRCh37
NC_000009.10:g.106584967del NCBI36
NG_007981.1:g.150307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.*1466del MANE Select ENSP00000363868.3:n.*1466del
ENST00000678995.1:c.*1466del ENSP00000504612.1:n.*1466del
ENST00000374736.7:c.*1466del ENSP00000363868.3:n.*1466del
NM_005502.3:c.*1466del NP_005493.2:n.*1466del
XM_005251773.1:c.*1466del XP_005251830.1:n.*1466del
XM_005251776.1:c.*1466del XP_005251833.1:n.*1466del
XM_011518339.1:c.*1466del XP_011516641.1:n.*1466del
XM_011518340.1:c.*1466del XP_011516642.1:n.*1466del
XM_011518341.1:c.*1466del XP_011516643.1:n.*1466del
XM_011518342.1:c.*1466del XP_011516644.1:n.*1466del
XM_005251773.3:c.*1466del XP_005251830.1:n.*1466del
XM_005251776.3:c.*1466del XP_005251833.1:n.*1466del
XM_011518339.3:c.*1466del XP_011516641.1:n.*1466del
XM_011518340.3:c.*1466del XP_011516642.1:n.*1466del
XM_011518341.3:c.*1466del XP_011516643.1:n.*1466del
XM_011518342.3:c.*1466del XP_011516644.1:n.*1466del
XM_017014378.2:c.*1466del XP_016869867.1:n.*1466del
XM_017014379.2:c.*1466del XP_016869868.1:n.*1466del
XM_017014380.2:c.*1466del XP_016869869.1:n.*1466del
XM_017014381.2:c.*1466del XP_016869870.1:n.*1466del
XM_017014382.2:c.*1466del XP_016869871.1:n.*1466del
NM_005502.4:c.*1466del MANE Select NP_005493.2:n.*1466del