Canonical Allele Identifier: CA2841436241

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806282dup , CM000671.2:g.104806282dup	GRCh38
NC_000009.11:g.107568563dup , CM000671.1:g.107568563dup	GRCh37
NC_000009.10:g.106608384dup	NCBI36
NG_007981.1:g.126875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4424dup MANE Select	ENSP00000363868.3:p.Val1476CysfsTer?
ENST00000678995.1:c.4430dup	ENSP00000504612.1:p.Val1478CysfsTer?
ENST00000374736.7:c.4424dup	ENSP00000363868.3:p.Val1476CysfsTer?
NM_005502.3:c.4424dup	NP_005493.2:p.Val1476CysfsTer?
XM_005251773.1:c.4430dup	XP_005251830.1:p.Val1478CysfsTer?
XM_005251776.1:c.4250dup	XP_005251833.1:p.Val1418CysfsTer?
XM_011518339.1:c.4505dup	XP_011516641.1:p.Val1503CysfsTer?
XM_011518340.1:c.4505dup	XP_011516642.1:p.Val1503CysfsTer?
XM_011518341.1:c.4499dup	XP_011516643.1:p.Val1501CysfsTer?
XM_011518342.1:c.4067dup	XP_011516644.1:p.Val1357CysfsTer?
XM_011518343.1:c.4505dup	XP_011516645.1:p.Val1503CysfsTer?
XM_011518344.1:c.4505dup	XP_011516646.1:p.Val1503CysfsTer?
XM_005251773.3:c.4430dup	XP_005251830.1:p.Val1478CysfsTer?
XM_005251776.3:c.4250dup	XP_005251833.1:p.Val1418CysfsTer?
XM_011518339.3:c.4505dup	XP_011516641.1:p.Val1503CysfsTer?
XM_011518340.3:c.4505dup	XP_011516642.1:p.Val1503CysfsTer?
XM_011518341.3:c.4499dup	XP_011516643.1:p.Val1501CysfsTer?
XM_011518342.3:c.4067dup	XP_011516644.1:p.Val1357CysfsTer?
XM_011518344.2:c.4505dup	XP_011516646.1:p.Val1503CysfsTer?
XM_017014378.2:c.4505dup	XP_016869867.1:p.Val1503CysfsTer?
XM_017014379.2:c.4505dup	XP_016869868.1:p.Val1503CysfsTer?
XM_017014380.2:c.4505dup	XP_016869869.1:p.Val1503CysfsTer?
XM_017014381.2:c.4505dup	XP_016869870.1:p.Val1503CysfsTer?
XM_017014382.2:c.4367dup	XP_016869871.1:p.Val1457CysfsTer?
XR_001746223.1:n.4818dup
NM_005502.4:c.4424dup MANE Select	NP_005493.2:p.Val1476CysfsTer?