Canonical Allele Identifier: CA1869929793
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104806320_104806321delinsGC , CM000671.2:g.104806320_104806321delinsGC GRCh38
NC_000009.11:g.107568601_107568602delinsGC , CM000671.1:g.107568601_107568602delinsGC GRCh37
NC_000009.10:g.106608422_106608423delinsGC NCBI36
NG_007981.1:g.126835_126836delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.4384_4385delinsGC MANE Select ENSP00000363868.3:p.Ala1462=
ENST00000678995.1:c.4390_4391delinsGC ENSP00000504612.1:p.Ala1464=
ENST00000374736.7:c.4384_4385delinsGC ENSP00000363868.3:p.Ala1462=
NM_005502.3:c.4384_4385delinsGC NP_005493.2:p.Ala1462=
XM_005251773.1:c.4390_4391delinsGC XP_005251830.1:p.Ala1464=
XM_005251776.1:c.4210_4211delinsGC XP_005251833.1:p.Ala1404=
XM_011518339.1:c.4465_4466delinsGC XP_011516641.1:p.Ala1489=
XM_011518340.1:c.4465_4466delinsGC XP_011516642.1:p.Ala1489=
XM_011518341.1:c.4459_4460delinsGC XP_011516643.1:p.Ala1487=
XM_011518342.1:c.4027_4028delinsGC XP_011516644.1:p.Ala1343=
XM_011518343.1:c.4465_4466delinsGC XP_011516645.1:p.Ala1489=
XM_011518344.1:c.4465_4466delinsGC XP_011516646.1:p.Ala1489=
XM_005251773.3:c.4390_4391delinsGC XP_005251830.1:p.Ala1464=
XM_005251776.3:c.4210_4211delinsGC XP_005251833.1:p.Ala1404=
XM_011518339.3:c.4465_4466delinsGC XP_011516641.1:p.Ala1489=
XM_011518340.3:c.4465_4466delinsGC XP_011516642.1:p.Ala1489=
XM_011518341.3:c.4459_4460delinsGC XP_011516643.1:p.Ala1487=
XM_011518342.3:c.4027_4028delinsGC XP_011516644.1:p.Ala1343=
XM_011518344.2:c.4465_4466delinsGC XP_011516646.1:p.Ala1489=
XM_017014378.2:c.4465_4466delinsGC XP_016869867.1:p.Ala1489=
XM_017014379.2:c.4465_4466delinsGC XP_016869868.1:p.Ala1489=
XM_017014380.2:c.4465_4466delinsGC XP_016869869.1:p.Ala1489=
XM_017014381.2:c.4465_4466delinsGC XP_016869870.1:p.Ala1489=
XM_017014382.2:c.4327_4328delinsGC XP_016869871.1:p.Ala1443=
XR_001746223.1:n.4778_4779delinsGC
NM_005502.4:c.4384_4385delinsGC MANE Select NP_005493.2:p.Ala1462=