Canonical Allele Identifier: CA197396985

Gene: ABCA1

Linked Data

• dbSNP Id: rs879306505

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831701del , CM000671.2:g.104831701del	GRCh38
NC_000009.11:g.107593982del , CM000671.1:g.107593982del	GRCh37
NC_000009.10:g.106633803del	NCBI36
NG_007981.1:g.101455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1636del MANE Select	ENSP00000363868.3:p.Ile546LeufsTer?
ENST00000678995.1:c.1636del	ENSP00000504612.1:p.Ile546LeufsTer?
ENST00000374736.7:c.1636del	ENSP00000363868.3:p.Ile546LeufsTer?
NM_005502.3:c.1636del	NP_005493.2:p.Ile546LeufsTer?
XM_005251773.1:c.1636del	XP_005251830.1:p.Ile546LeufsTer?
XM_005251776.1:c.1456del	XP_005251833.1:p.Ile486LeufsTer?
XM_011518339.1:c.1711del	XP_011516641.1:p.Ile571LeufsTer?
XM_011518340.1:c.1711del	XP_011516642.1:p.Ile571LeufsTer?
XM_011518341.1:c.1711del	XP_011516643.1:p.Ile571LeufsTer?
XM_011518342.1:c.1273del	XP_011516644.1:p.Ile425LeufsTer?
XM_011518343.1:c.1711del	XP_011516645.1:p.Ile571LeufsTer?
XM_011518344.1:c.1711del	XP_011516646.1:p.Ile571LeufsTer?
XM_005251773.3:c.1636del	XP_005251830.1:p.Ile546LeufsTer?
XM_005251776.3:c.1456del	XP_005251833.1:p.Ile486LeufsTer?
XM_011518339.3:c.1711del	XP_011516641.1:p.Ile571LeufsTer?
XM_011518340.3:c.1711del	XP_011516642.1:p.Ile571LeufsTer?
XM_011518341.3:c.1711del	XP_011516643.1:p.Ile571LeufsTer?
XM_011518342.3:c.1273del	XP_011516644.1:p.Ile425LeufsTer?
XM_011518344.2:c.1711del	XP_011516646.1:p.Ile571LeufsTer?
XM_017014378.2:c.1711del	XP_016869867.1:p.Ile571LeufsTer?
XM_017014379.2:c.1711del	XP_016869868.1:p.Ile571LeufsTer?
XM_017014380.2:c.1711del	XP_016869869.1:p.Ile571LeufsTer?
XM_017014381.2:c.1711del	XP_016869870.1:p.Ile571LeufsTer?
XM_017014382.2:c.1573del	XP_016869871.1:p.Ile525LeufsTer?
XR_001746223.1:n.2024del
NM_005502.4:c.1636del MANE Select	NP_005493.2:p.Ile546LeufsTer?