Canonical Allele Identifier: CA120481
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104830993del , CM000671.2:g.104830993del GRCh38
NC_000009.11:g.107593274del , CM000671.1:g.107593274del GRCh37
NC_000009.10:g.106633095del NCBI36
NG_007981.1:g.102163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.1824del MANE Select ENSP00000363868.3:p.Thr609ArgfsTer27
ENST00000678995.1:c.1824del ENSP00000504612.1:p.Thr609ArgfsTer27
ENST00000374736.7:c.1824del ENSP00000363868.3:p.Thr609ArgfsTer27
NM_005502.3:c.1824del NP_005493.2:p.Thr609ArgfsTer27
XM_005251773.1:c.1824del XP_005251830.1:p.Thr609ArgfsTer27
XM_005251776.1:c.1644del XP_005251833.1:p.Thr549ArgfsTer27
XM_011518339.1:c.1899del XP_011516641.1:p.Thr634ArgfsTer27
XM_011518340.1:c.1899del XP_011516642.1:p.Thr634ArgfsTer27
XM_011518341.1:c.1899del XP_011516643.1:p.Thr634ArgfsTer27
XM_011518342.1:c.1461del XP_011516644.1:p.Thr488ArgfsTer27
XM_011518343.1:c.1899del XP_011516645.1:p.Thr634ArgfsTer27
XM_011518344.1:c.1899del XP_011516646.1:p.Thr634ArgfsTer27
XM_005251773.3:c.1824del XP_005251830.1:p.Thr609ArgfsTer27
XM_005251776.3:c.1644del XP_005251833.1:p.Thr549ArgfsTer27
XM_011518339.3:c.1899del XP_011516641.1:p.Thr634ArgfsTer27
XM_011518340.3:c.1899del XP_011516642.1:p.Thr634ArgfsTer27
XM_011518341.3:c.1899del XP_011516643.1:p.Thr634ArgfsTer27
XM_011518342.3:c.1461del XP_011516644.1:p.Thr488ArgfsTer27
XM_011518344.2:c.1899del XP_011516646.1:p.Thr634ArgfsTer27
XM_017014378.2:c.1899del XP_016869867.1:p.Thr634ArgfsTer27
XM_017014379.2:c.1899del XP_016869868.1:p.Thr634ArgfsTer27
XM_017014380.2:c.1899del XP_016869869.1:p.Thr634ArgfsTer27
XM_017014381.2:c.1899del XP_016869870.1:p.Thr634ArgfsTer27
XM_017014382.2:c.1761del XP_016869871.1:p.Thr588ArgfsTer27
XR_001746223.1:n.2212del
NM_005502.4:c.1824del MANE Select NP_005493.2:p.Thr609ArgfsTer27