Canonical Allele Identifier: CA1869897342
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104902023_104902024delinsTC , CM000671.2:g.104902023_104902024delinsTC GRCh38
NC_000009.11:g.107664304_107664305delinsTC , CM000671.1:g.107664304_107664305delinsTC GRCh37
NC_000009.10:g.106704125_106704126delinsTC NCBI36
NG_007981.1:g.31132_31133delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.66+1590_66+1591delinsGA MANE Select ENSP00000363868.3:n.66+1590_66+1591delins...
ENST00000678995.1:c.66+1590_66+1591delinsGA ENSP00000504612.1:n.66+1590_66+1591delins...
ENST00000374733.1:c.-114-12829_-114-12828delinsGA ENSP00000363865.1:n.-114-12829_-114-12828...
ENST00000374736.7:c.66+1590_66+1591delinsGA ENSP00000363868.3:n.66+1590_66+1591delins...
ENST00000423487.6:c.66+1590_66+1591delinsGA ENSP00000416623.2:n.66+1590_66+1591delins...
NM_005502.3:c.66+1590_66+1591delinsGA NP_005493.2:n.66+1590_66+1591delinsGA
XM_005251773.1:c.66+1590_66+1591delinsGA XP_005251830.1:n.66+1590_66+1591delinsGA
XM_005251776.1:c.-114-12829_-114-12828delinsGA XP_005251833.1:n.-114-12829_-114-12828del...
XM_011518339.1:c.141+1026_141+1027delinsGA XP_011516641.1:n.141+1026_141+1027delinsG...
XM_011518340.1:c.141+1026_141+1027delinsGA XP_011516642.1:n.141+1026_141+1027delinsG...
XM_011518341.1:c.141+1026_141+1027delinsGA XP_011516643.1:n.141+1026_141+1027delinsG...
XM_011518342.1:c.-155-12829_-155-12828delinsGA XP_011516644.1:n.-155-12829_-155-12828del...
XM_011518343.1:c.141+1026_141+1027delinsGA XP_011516645.1:n.141+1026_141+1027delinsG...
XM_011518344.1:c.141+1026_141+1027delinsGA XP_011516646.1:n.141+1026_141+1027delinsG...
XM_005251773.3:c.66+1590_66+1591delinsGA XP_005251830.1:n.66+1590_66+1591delinsGA
XM_005251776.3:c.-114-12829_-114-12828delinsGA XP_005251833.1:n.-114-12829_-114-12828del...
XM_011518339.3:c.141+1026_141+1027delinsGA XP_011516641.1:n.141+1026_141+1027delinsG...
XM_011518340.3:c.141+1026_141+1027delinsGA XP_011516642.1:n.141+1026_141+1027delinsG...
XM_011518341.3:c.141+1026_141+1027delinsGA XP_011516643.1:n.141+1026_141+1027delinsG...
XM_011518342.3:c.-155-12829_-155-12828delinsGA XP_011516644.1:n.-155-12829_-155-12828del...
XM_011518344.2:c.141+1026_141+1027delinsGA XP_011516646.1:n.141+1026_141+1027delinsG...
XM_017014378.2:c.141+1026_141+1027delinsGA XP_016869867.1:n.141+1026_141+1027delinsG...
XM_017014379.2:c.141+1026_141+1027delinsGA XP_016869868.1:n.141+1026_141+1027delinsG...
XM_017014380.2:c.141+1026_141+1027delinsGA XP_016869869.1:n.141+1026_141+1027delinsG...
XM_017014381.2:c.141+1026_141+1027delinsGA XP_016869870.1:n.141+1026_141+1027delinsG...
XR_001746223.1:n.454+1026_454+1027delinsGA
NM_005502.4:c.66+1590_66+1591delinsGA MANE Select NP_005493.2:n.66+1590_66+1591delinsGA