Canonical Allele Identifier: CA197383638

Gene: ABCA1

Linked Data

• dbSNP Id: rs945737905
• gnomAD v2: 9-107647192-A-AT
• gnomAD v3: 9-104884911-A-AT
• gnomAD v4: 9-104884911-A-AT
• MyVariant Identifiers: chr9:g.107647192_107647193insT (hg19) ; chr9:g.104884911_104884912insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884917dup , CM000671.2:g.104884917dup	GRCh38
NC_000009.11:g.107647198dup , CM000671.1:g.107647198dup	GRCh37
NC_000009.10:g.106687019dup	NCBI36
NG_007981.1:g.48244dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.161-344dup MANE Select	ENSP00000363868.3:n.161-344dup
ENST00000678995.1:c.161-344dup	ENSP00000504612.1:n.161-344dup
ENST00000374733.1:c.-20-344dup	ENSP00000363865.1:n.-20-344dup
ENST00000374736.7:c.161-344dup	ENSP00000363868.3:n.161-344dup
ENST00000423487.6:c.161-344dup	ENSP00000416623.2:n.161-344dup
NM_005502.3:c.161-344dup	NP_005493.2:n.161-344dup
XM_005251773.1:c.161-344dup	XP_005251830.1:n.161-344dup
XM_005251776.1:c.-20-344dup	XP_005251833.1:n.-20-344dup
XM_011518339.1:c.236-344dup	XP_011516641.1:n.236-344dup
XM_011518340.1:c.236-344dup	XP_011516642.1:n.236-344dup
XM_011518341.1:c.236-344dup	XP_011516643.1:n.236-344dup
XM_011518342.1:c.-61-1755dup	XP_011516644.1:n.-61-1755dup
XM_011518343.1:c.236-344dup	XP_011516645.1:n.236-344dup
XM_011518344.1:c.236-344dup	XP_011516646.1:n.236-344dup
XM_005251773.3:c.161-344dup	XP_005251830.1:n.161-344dup
XM_005251776.3:c.-20-344dup	XP_005251833.1:n.-20-344dup
XM_011518339.3:c.236-344dup	XP_011516641.1:n.236-344dup
XM_011518340.3:c.236-344dup	XP_011516642.1:n.236-344dup
XM_011518341.3:c.236-344dup	XP_011516643.1:n.236-344dup
XM_011518342.3:c.-61-1755dup	XP_011516644.1:n.-61-1755dup
XM_011518344.2:c.236-344dup	XP_011516646.1:n.236-344dup
XM_017014378.2:c.236-344dup	XP_016869867.1:n.236-344dup
XM_017014379.2:c.236-344dup	XP_016869868.1:n.236-344dup
XM_017014380.2:c.236-344dup	XP_016869869.1:n.236-344dup
XM_017014381.2:c.236-344dup	XP_016869870.1:n.236-344dup
XM_017014382.2:c.98-344dup	XP_016869871.1:n.98-344dup
XR_001746223.1:n.549-344dup
NM_005502.4:c.161-344dup MANE Select	NP_005493.2:n.161-344dup