Canonical Allele Identifier: CA2691057521

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104884553-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884555_104884556dup , CM000671.2:g.104884555_104884556dup	GRCh38
NC_000009.11:g.107646836_107646837dup , CM000671.1:g.107646836_107646837dup	GRCh37
NC_000009.10:g.106686657_106686658dup	NCBI36
NG_007981.1:g.48601_48602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.174_175dup MANE Select	ENSP00000363868.3:p.Lys59IlefsTer?
ENST00000678995.1:c.174_175dup	ENSP00000504612.1:p.Lys59IlefsTer?
ENST00000374733.1:c.-7_-6dup	ENSP00000363865.1:n.-7_-6dup
ENST00000374736.7:c.174_175dup	ENSP00000363868.3:p.Lys59IlefsTer?
ENST00000423487.6:c.174_175dup	ENSP00000416623.2:p.Lys59IlefsTer?
NM_005502.3:c.174_175dup	NP_005493.2:p.Lys59IlefsTer?
XM_005251773.1:c.174_175dup	XP_005251830.1:p.Lys59IlefsTer?
XM_005251776.1:c.-7_-6dup	XP_005251833.1:n.-7_-6dup
XM_011518339.1:c.249_250dup	XP_011516641.1:p.Lys84IlefsTer?
XM_011518340.1:c.249_250dup	XP_011516642.1:p.Lys84IlefsTer?
XM_011518341.1:c.249_250dup	XP_011516643.1:p.Lys84IlefsTer?
XM_011518342.1:c.-61-1398_-61-1397dup	XP_011516644.1:n.-61-1398_-61-1397dup
XM_011518343.1:c.249_250dup	XP_011516645.1:p.Lys84IlefsTer?
XM_011518344.1:c.249_250dup	XP_011516646.1:p.Lys84IlefsTer?
XM_005251773.3:c.174_175dup	XP_005251830.1:p.Lys59IlefsTer?
XM_005251776.3:c.-7_-6dup	XP_005251833.1:n.-7_-6dup
XM_011518339.3:c.249_250dup	XP_011516641.1:p.Lys84IlefsTer?
XM_011518340.3:c.249_250dup	XP_011516642.1:p.Lys84IlefsTer?
XM_011518341.3:c.249_250dup	XP_011516643.1:p.Lys84IlefsTer?
XM_011518342.3:c.-61-1398_-61-1397dup	XP_011516644.1:n.-61-1398_-61-1397dup
XM_011518344.2:c.249_250dup	XP_011516646.1:p.Lys84IlefsTer?
XM_017014378.2:c.249_250dup	XP_016869867.1:p.Lys84IlefsTer?
XM_017014379.2:c.249_250dup	XP_016869868.1:p.Lys84IlefsTer?
XM_017014380.2:c.249_250dup	XP_016869869.1:p.Lys84IlefsTer?
XM_017014381.2:c.249_250dup	XP_016869870.1:p.Lys84IlefsTer?
XM_017014382.2:c.111_112dup	XP_016869871.1:p.Lys38IlefsTer?
XR_001746223.1:n.562_563dup
NM_005502.4:c.174_175dup MANE Select	NP_005493.2:p.Lys59IlefsTer?