Canonical Allele Identifier: CA5169457

Gene: ABCA1

Linked Data

• dbSNP Id: rs771601621
• ExAC: 9:107646741 GC / G
• gnomAD v2: 9-107646741-GC-G
• gnomAD v4: 9-104884460-GC-G
• MyVariant Identifiers: chr9:g.107646742del (hg19) ; chr9:g.104884461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884462del , CM000671.2:g.104884462del	GRCh38
NC_000009.11:g.107646743del , CM000671.1:g.107646743del	GRCh37
NC_000009.10:g.106686564del	NCBI36
NG_007981.1:g.48695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.268del MANE Select	ENSP00000363868.3:p.Ala90LeufsTer?
ENST00000678995.1:c.268del	ENSP00000504612.1:p.Ala90LeufsTer?
ENST00000374733.1:c.88del	ENSP00000363865.1:p.Ala30LeufsTer?
ENST00000374736.7:c.268del	ENSP00000363868.3:p.Ala90LeufsTer?
ENST00000423487.6:c.268del	ENSP00000416623.2:p.Ala90LeufsTer?
NM_005502.3:c.268del	NP_005493.2:p.Ala90LeufsTer?
XM_005251773.1:c.268del	XP_005251830.1:p.Ala90LeufsTer?
XM_005251776.1:c.88del	XP_005251833.1:p.Ala30LeufsTer?
XM_011518339.1:c.343del	XP_011516641.1:p.Ala115LeufsTer?
XM_011518340.1:c.343del	XP_011516642.1:p.Ala115LeufsTer?
XM_011518341.1:c.343del	XP_011516643.1:p.Ala115LeufsTer?
XM_011518342.1:c.-61-1304del	XP_011516644.1:n.-61-1304del
XM_011518343.1:c.343del	XP_011516645.1:p.Ala115LeufsTer?
XM_011518344.1:c.343del	XP_011516646.1:p.Ala115LeufsTer?
XM_005251773.3:c.268del	XP_005251830.1:p.Ala90LeufsTer?
XM_005251776.3:c.88del	XP_005251833.1:p.Ala30LeufsTer?
XM_011518339.3:c.343del	XP_011516641.1:p.Ala115LeufsTer?
XM_011518340.3:c.343del	XP_011516642.1:p.Ala115LeufsTer?
XM_011518341.3:c.343del	XP_011516643.1:p.Ala115LeufsTer?
XM_011518342.3:c.-61-1304del	XP_011516644.1:n.-61-1304del
XM_011518344.2:c.343del	XP_011516646.1:p.Ala115LeufsTer?
XM_017014378.2:c.343del	XP_016869867.1:p.Ala115LeufsTer?
XM_017014379.2:c.343del	XP_016869868.1:p.Ala115LeufsTer?
XM_017014380.2:c.343del	XP_016869869.1:p.Ala115LeufsTer?
XM_017014381.2:c.343del	XP_016869870.1:p.Ala115LeufsTer?
XM_017014382.2:c.205del	XP_016869871.1:p.Ala69LeufsTer?
XR_001746223.1:n.656del
NM_005502.4:c.268del MANE Select	NP_005493.2:p.Ala90LeufsTer?