Canonical Allele Identifier: CA589840756

Gene: ABCA1

Linked Data

• dbSNP Id: rs1564147489
• gnomAD v2: 9-107593339-G-GC
• gnomAD v3: 9-104831058-G-GC
• gnomAD v4: 9-104831058-G-GC
• MyVariant Identifiers: chr9:g.107593339_107593340insC (hg19) ; chr9:g.104831058_104831059insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831059dup , CM000671.2:g.104831059dup	GRCh38
NC_000009.11:g.107593340dup , CM000671.1:g.107593340dup	GRCh37
NC_000009.10:g.106633161dup	NCBI36
NG_007981.1:g.102097dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1758dup MANE Select	ENSP00000363868.3:p.Arg587AlafsTer?
ENST00000678995.1:c.1758dup	ENSP00000504612.1:p.Arg587AlafsTer?
ENST00000374736.7:c.1758dup	ENSP00000363868.3:p.Arg587AlafsTer?
NM_005502.3:c.1758dup	NP_005493.2:p.Arg587AlafsTer?
XM_005251773.1:c.1758dup	XP_005251830.1:p.Arg587AlafsTer?
XM_005251776.1:c.1578dup	XP_005251833.1:p.Arg527AlafsTer?
XM_011518339.1:c.1833dup	XP_011516641.1:p.Arg612AlafsTer?
XM_011518340.1:c.1833dup	XP_011516642.1:p.Arg612AlafsTer?
XM_011518341.1:c.1833dup	XP_011516643.1:p.Arg612AlafsTer?
XM_011518342.1:c.1395dup	XP_011516644.1:p.Arg466AlafsTer?
XM_011518343.1:c.1833dup	XP_011516645.1:p.Arg612AlafsTer?
XM_011518344.1:c.1833dup	XP_011516646.1:p.Arg612AlafsTer?
XM_005251773.3:c.1758dup	XP_005251830.1:p.Arg587AlafsTer?
XM_005251776.3:c.1578dup	XP_005251833.1:p.Arg527AlafsTer?
XM_011518339.3:c.1833dup	XP_011516641.1:p.Arg612AlafsTer?
XM_011518340.3:c.1833dup	XP_011516642.1:p.Arg612AlafsTer?
XM_011518341.3:c.1833dup	XP_011516643.1:p.Arg612AlafsTer?
XM_011518342.3:c.1395dup	XP_011516644.1:p.Arg466AlafsTer?
XM_011518344.2:c.1833dup	XP_011516646.1:p.Arg612AlafsTer?
XM_017014378.2:c.1833dup	XP_016869867.1:p.Arg612AlafsTer?
XM_017014379.2:c.1833dup	XP_016869868.1:p.Arg612AlafsTer?
XM_017014380.2:c.1833dup	XP_016869869.1:p.Arg612AlafsTer?
XM_017014381.2:c.1833dup	XP_016869870.1:p.Arg612AlafsTer?
XM_017014382.2:c.1695dup	XP_016869871.1:p.Arg566AlafsTer?
XR_001746223.1:n.2146dup
NM_005502.4:c.1758dup MANE Select	NP_005493.2:p.Arg587AlafsTer?