Canonical Allele Identifier: CA2739264899

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 2862987
• ClinVar RCV Id: RCV003700099

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831658dup , CM000671.2:g.104831658dup	GRCh38
NC_000009.11:g.107593939dup , CM000671.1:g.107593939dup	GRCh37
NC_000009.10:g.106633760dup	NCBI36
NG_007981.1:g.101499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1680dup MANE Select	ENSP00000363868.3:p.Asp561Ter
ENST00000678995.1:c.1680dup	ENSP00000504612.1:p.Asp561Ter
ENST00000374736.7:c.1680dup	ENSP00000363868.3:p.Asp561Ter
NM_005502.3:c.1680dup	NP_005493.2:p.Asp561Ter
XM_005251773.1:c.1680dup	XP_005251830.1:p.Asp561Ter
XM_005251776.1:c.1500dup	XP_005251833.1:p.Asp501Ter
XM_011518339.1:c.1755dup	XP_011516641.1:p.Asp586Ter
XM_011518340.1:c.1755dup	XP_011516642.1:p.Asp586Ter
XM_011518341.1:c.1755dup	XP_011516643.1:p.Asp586Ter
XM_011518342.1:c.1317dup	XP_011516644.1:p.Asp440Ter
XM_011518343.1:c.1755dup	XP_011516645.1:p.Asp586Ter
XM_011518344.1:c.1755dup	XP_011516646.1:p.Asp586Ter
XM_005251773.3:c.1680dup	XP_005251830.1:p.Asp561Ter
XM_005251776.3:c.1500dup	XP_005251833.1:p.Asp501Ter
XM_011518339.3:c.1755dup	XP_011516641.1:p.Asp586Ter
XM_011518340.3:c.1755dup	XP_011516642.1:p.Asp586Ter
XM_011518341.3:c.1755dup	XP_011516643.1:p.Asp586Ter
XM_011518342.3:c.1317dup	XP_011516644.1:p.Asp440Ter
XM_011518344.2:c.1755dup	XP_011516646.1:p.Asp586Ter
XM_017014378.2:c.1755dup	XP_016869867.1:p.Asp586Ter
XM_017014379.2:c.1755dup	XP_016869868.1:p.Asp586Ter
XM_017014380.2:c.1755dup	XP_016869869.1:p.Asp586Ter
XM_017014381.2:c.1755dup	XP_016869870.1:p.Asp586Ter
XM_017014382.2:c.1617dup	XP_016869871.1:p.Asp540Ter
XR_001746223.1:n.2068dup
NM_005502.4:c.1680dup MANE Select	NP_005493.2:p.Asp561Ter