Canonical Allele Identifier: CA2691055770

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104825768-G-GAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104825769_104825772dup , CM000671.2:g.104825769_104825772dup	GRCh38
NC_000009.11:g.107588050_107588053dup , CM000671.1:g.107588050_107588053dup	GRCh37
NC_000009.10:g.106627871_106627874dup	NCBI36
NG_007981.1:g.107384_107387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2453_2456dup MANE Select	ENSP00000363868.3:p.Phe819LeufsTer14
ENST00000678995.1:c.2453_2456dup	ENSP00000504612.1:p.Phe819LeufsTer14
ENST00000374736.7:c.2453_2456dup	ENSP00000363868.3:p.Phe819LeufsTer14
ENST00000494467.1:n.626_629dup
NM_005502.3:c.2453_2456dup	NP_005493.2:p.Phe819LeufsTer14
XM_005251773.1:c.2453_2456dup	XP_005251830.1:p.Phe819LeufsTer14
XM_005251776.1:c.2273_2276dup	XP_005251833.1:p.Phe759LeufsTer14
XM_011518339.1:c.2528_2531dup	XP_011516641.1:p.Phe844LeufsTer14
XM_011518340.1:c.2528_2531dup	XP_011516642.1:p.Phe844LeufsTer14
XM_011518341.1:c.2528_2531dup	XP_011516643.1:p.Phe844LeufsTer14
XM_011518342.1:c.2090_2093dup	XP_011516644.1:p.Phe698LeufsTer14
XM_011518343.1:c.2528_2531dup	XP_011516645.1:p.Phe844LeufsTer14
XM_011518344.1:c.2528_2531dup	XP_011516646.1:p.Phe844LeufsTer14
XM_005251773.3:c.2453_2456dup	XP_005251830.1:p.Phe819LeufsTer14
XM_005251776.3:c.2273_2276dup	XP_005251833.1:p.Phe759LeufsTer14
XM_011518339.3:c.2528_2531dup	XP_011516641.1:p.Phe844LeufsTer14
XM_011518340.3:c.2528_2531dup	XP_011516642.1:p.Phe844LeufsTer14
XM_011518341.3:c.2528_2531dup	XP_011516643.1:p.Phe844LeufsTer14
XM_011518342.3:c.2090_2093dup	XP_011516644.1:p.Phe698LeufsTer14
XM_011518344.2:c.2528_2531dup	XP_011516646.1:p.Phe844LeufsTer14
XM_017014378.2:c.2528_2531dup	XP_016869867.1:p.Phe844LeufsTer14
XM_017014379.2:c.2528_2531dup	XP_016869868.1:p.Phe844LeufsTer14
XM_017014380.2:c.2528_2531dup	XP_016869869.1:p.Phe844LeufsTer14
XM_017014381.2:c.2528_2531dup	XP_016869870.1:p.Phe844LeufsTer14
XM_017014382.2:c.2390_2393dup	XP_016869871.1:p.Phe798LeufsTer14
XR_001746223.1:n.2841_2844dup
NM_005502.4:c.2453_2456dup MANE Select	NP_005493.2:p.Phe819LeufsTer14