Canonical Allele Identifier: CA1869908618
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1828539817

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104781419_104781420del , CM000671.2:g.104781419_104781420del GRCh38
NC_000009.11:g.107543700_107543701del , CM000671.1:g.107543700_107543701del GRCh37
NC_000009.10:g.106583521_106583522del NCBI36
NG_007981.1:g.151736_151737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.*2895_*2896del MANE Select ENSP00000363868.3:n.*2895_*2896del
ENST00000678995.1:c.*2895_*2896del ENSP00000504612.1:n.*2895_*2896del
ENST00000374736.7:c.*2895_*2896del ENSP00000363868.3:n.*2895_*2896del
NM_005502.3:c.*2895_*2896del NP_005493.2:n.*2895_*2896del
XM_005251773.1:c.*2895_*2896del XP_005251830.1:n.*2895_*2896del
XM_005251776.1:c.*2895_*2896del XP_005251833.1:n.*2895_*2896del
XM_011518339.1:c.*2895_*2896del XP_011516641.1:n.*2895_*2896del
XM_011518340.1:c.*2895_*2896del XP_011516642.1:n.*2895_*2896del
XM_011518341.1:c.*2895_*2896del XP_011516643.1:n.*2895_*2896del
XM_011518342.1:c.*2895_*2896del XP_011516644.1:n.*2895_*2896del
XM_005251773.3:c.*2895_*2896del XP_005251830.1:n.*2895_*2896del
XM_005251776.3:c.*2895_*2896del XP_005251833.1:n.*2895_*2896del
XM_011518339.3:c.*2895_*2896del XP_011516641.1:n.*2895_*2896del
XM_011518340.3:c.*2895_*2896del XP_011516642.1:n.*2895_*2896del
XM_011518341.3:c.*2895_*2896del XP_011516643.1:n.*2895_*2896del
XM_011518342.3:c.*2895_*2896del XP_011516644.1:n.*2895_*2896del
XM_017014378.2:c.*2895_*2896del XP_016869867.1:n.*2895_*2896del
XM_017014379.2:c.*2895_*2896del XP_016869868.1:n.*2895_*2896del
XM_017014380.2:c.*2895_*2896del XP_016869869.1:n.*2895_*2896del
XM_017014381.2:c.*2895_*2896del XP_016869870.1:n.*2895_*2896del
XM_017014382.2:c.*2895_*2896del XP_016869871.1:n.*2895_*2896del
NM_005502.4:c.*2895_*2896del MANE Select NP_005493.2:n.*2895_*2896del