Canonical Allele Identifier: CA2558682839

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104915067_104915074dup , CM000671.2:g.104915067_104915074dup	GRCh38
NC_000009.11:g.107677348_107677355dup , CM000671.1:g.107677348_107677355dup	GRCh37
NC_000009.10:g.106717169_106717176dup	NCBI36
NG_007981.1:g.18082_18089dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.-92-11303_-92-11296dup MANE Select	ENSP00000363868.3:n.-92-11303_-92-11296du...
ENST00000678995.1:c.-92-11303_-92-11296dup	ENSP00000504612.1:n.-92-11303_-92-11296du...
ENST00000374733.1:c.-115+12861_-115+12868dup	ENSP00000363865.1:n.-115+12861_-115+12868...
ENST00000374736.7:c.-92-11303_-92-11296dup	ENSP00000363868.3:n.-92-11303_-92-11296du...
ENST00000423487.6:c.-92-11303_-92-11296dup	ENSP00000416623.2:n.-92-11303_-92-11296du...
NM_005502.3:c.-92-11303_-92-11296dup	NP_005493.2:n.-92-11303_-92-11296dup
XM_005251773.1:c.-92-11303_-92-11296dup	XP_005251830.1:n.-92-11303_-92-11296dup
XM_005251776.1:c.-115+12861_-115+12868dup	XP_005251833.1:n.-115+12861_-115+12868dup...
XM_011518339.1:c.-92-11303_-92-11296dup	XP_011516641.1:n.-92-11303_-92-11296dup
XM_011518341.1:c.-92-11303_-92-11296dup	XP_011516643.1:n.-92-11303_-92-11296dup
XM_011518342.1:c.-156+12861_-156+12868dup	XP_011516644.1:n.-156+12861_-156+12868dup...
XM_011518343.1:c.-92-11303_-92-11296dup	XP_011516645.1:n.-92-11303_-92-11296dup
XM_011518344.1:c.-92-11303_-92-11296dup	XP_011516646.1:n.-92-11303_-92-11296dup
XR_428585.2:n.999-3595_999-3588dup
XR_428586.2:n.999-3595_999-3588dup
XR_428587.2:n.20+2727_20+2734dup
XM_005251773.3:c.-92-11303_-92-11296dup	XP_005251830.1:n.-92-11303_-92-11296dup
XM_005251776.3:c.-115+12861_-115+12868dup	XP_005251833.1:n.-115+12861_-115+12868dup...
XM_011518339.3:c.-92-11303_-92-11296dup	XP_011516641.1:n.-92-11303_-92-11296dup
XM_011518341.3:c.-92-11303_-92-11296dup	XP_011516643.1:n.-92-11303_-92-11296dup
XM_011518342.3:c.-156+12861_-156+12868dup	XP_011516644.1:n.-156+12861_-156+12868dup...
XM_011518344.2:c.-92-11303_-92-11296dup	XP_011516646.1:n.-92-11303_-92-11296dup
XR_001746223.1:n.222-11303_222-11296dup
NM_005502.4:c.-92-11303_-92-11296dup MANE Select	NP_005493.2:n.-92-11303_-92-11296dup