Canonical Allele Identifier: CA2691050149

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104790812-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790817dup , CM000671.2:g.104790817dup	GRCh38
NC_000009.11:g.107553098dup , CM000671.1:g.107553098dup	GRCh37
NC_000009.10:g.106592919dup	NCBI36
NG_007981.1:g.142343dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5927+109dup MANE Select	ENSP00000363868.3:n.5927+109dup
ENST00000678995.1:c.5933+109dup	ENSP00000504612.1:n.5933+109dup
ENST00000374736.7:c.5927+109dup	ENSP00000363868.3:n.5927+109dup
NM_005502.3:c.5927+109dup	NP_005493.2:n.5927+109dup
XM_005251773.1:c.5933+109dup	XP_005251830.1:n.5933+109dup
XM_005251776.1:c.5753+109dup	XP_005251833.1:n.5753+109dup
XM_011518339.1:c.6008+109dup	XP_011516641.1:n.6008+109dup
XM_011518340.1:c.6008+109dup	XP_011516642.1:n.6008+109dup
XM_011518341.1:c.6002+109dup	XP_011516643.1:n.6002+109dup
XM_011518342.1:c.5570+109dup	XP_011516644.1:n.5570+109dup
XM_011518343.1:c.6008+109dup	XP_011516645.1:n.6008+109dup
XM_005251773.3:c.5933+109dup	XP_005251830.1:n.5933+109dup
XM_005251776.3:c.5753+109dup	XP_005251833.1:n.5753+109dup
XM_011518339.3:c.6008+109dup	XP_011516641.1:n.6008+109dup
XM_011518340.3:c.6008+109dup	XP_011516642.1:n.6008+109dup
XM_011518341.3:c.6002+109dup	XP_011516643.1:n.6002+109dup
XM_011518342.3:c.5570+109dup	XP_011516644.1:n.5570+109dup
XM_017014378.2:c.6008+109dup	XP_016869867.1:n.6008+109dup
XM_017014379.2:c.6008+109dup	XP_016869868.1:n.6008+109dup
XM_017014380.2:c.6008+109dup	XP_016869869.1:n.6008+109dup
XM_017014381.2:c.6008+109dup	XP_016869870.1:n.6008+109dup
XM_017014382.2:c.5870+109dup	XP_016869871.1:n.5870+109dup
XR_001746223.1:n.6321+109dup
NM_005502.4:c.5927+109dup MANE Select	NP_005493.2:n.5927+109dup