Canonical Allele Identifier: CA2841762109

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104829120dup , CM000671.2:g.104829120dup	GRCh38
NC_000009.11:g.107591401dup , CM000671.1:g.107591401dup	GRCh37
NC_000009.10:g.106631222dup	NCBI36
NG_007981.1:g.104037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1912dup MANE Select	ENSP00000363868.3:p.Arg638ProfsTer25
ENST00000678995.1:c.1912dup	ENSP00000504612.1:p.Arg638ProfsTer25
ENST00000374736.7:c.1912dup	ENSP00000363868.3:p.Arg638ProfsTer25
ENST00000494467.1:n.85dup
NM_005502.3:c.1912dup	NP_005493.2:p.Arg638ProfsTer25
XM_005251773.1:c.1912dup	XP_005251830.1:p.Arg638ProfsTer25
XM_005251776.1:c.1732dup	XP_005251833.1:p.Arg578ProfsTer25
XM_011518339.1:c.1987dup	XP_011516641.1:p.Arg663ProfsTer25
XM_011518340.1:c.1987dup	XP_011516642.1:p.Arg663ProfsTer25
XM_011518341.1:c.1987dup	XP_011516643.1:p.Arg663ProfsTer25
XM_011518342.1:c.1549dup	XP_011516644.1:p.Arg517ProfsTer25
XM_011518343.1:c.1987dup	XP_011516645.1:p.Arg663ProfsTer25
XM_011518344.1:c.1987dup	XP_011516646.1:p.Arg663ProfsTer25
XM_005251773.3:c.1912dup	XP_005251830.1:p.Arg638ProfsTer25
XM_005251776.3:c.1732dup	XP_005251833.1:p.Arg578ProfsTer25
XM_011518339.3:c.1987dup	XP_011516641.1:p.Arg663ProfsTer25
XM_011518340.3:c.1987dup	XP_011516642.1:p.Arg663ProfsTer25
XM_011518341.3:c.1987dup	XP_011516643.1:p.Arg663ProfsTer25
XM_011518342.3:c.1549dup	XP_011516644.1:p.Arg517ProfsTer25
XM_011518344.2:c.1987dup	XP_011516646.1:p.Arg663ProfsTer25
XM_017014378.2:c.1987dup	XP_016869867.1:p.Arg663ProfsTer25
XM_017014379.2:c.1987dup	XP_016869868.1:p.Arg663ProfsTer25
XM_017014380.2:c.1987dup	XP_016869869.1:p.Arg663ProfsTer25
XM_017014381.2:c.1987dup	XP_016869870.1:p.Arg663ProfsTer25
XM_017014382.2:c.1849dup	XP_016869871.1:p.Arg617ProfsTer25
XR_001746223.1:n.2300dup
NM_005502.4:c.1912dup MANE Select	NP_005493.2:p.Arg638ProfsTer25