Canonical Allele Identifier: CA2563591419

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104826724_104826725del , CM000671.2:g.104826724_104826725del	GRCh38
NC_000009.11:g.107589005_107589006del , CM000671.1:g.107589005_107589006del	GRCh37
NC_000009.10:g.106628826_106628827del	NCBI36
NG_007981.1:g.106431_106432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2337+223_2337+224del MANE Select	ENSP00000363868.3:n.2337+223_2337+224del
ENST00000678995.1:c.2337+223_2337+224del	ENSP00000504612.1:n.2337+223_2337+224del
ENST00000374736.7:c.2337+223_2337+224del	ENSP00000363868.3:n.2337+223_2337+224del
ENST00000494467.1:n.510+223_510+224del
NM_005502.3:c.2337+223_2337+224del	NP_005493.2:n.2337+223_2337+224del
XM_005251773.1:c.2337+223_2337+224del	XP_005251830.1:n.2337+223_2337+224del
XM_005251776.1:c.2157+223_2157+224del	XP_005251833.1:n.2157+223_2157+224del
XM_011518339.1:c.2412+223_2412+224del	XP_011516641.1:n.2412+223_2412+224del
XM_011518340.1:c.2412+223_2412+224del	XP_011516642.1:n.2412+223_2412+224del
XM_011518341.1:c.2412+223_2412+224del	XP_011516643.1:n.2412+223_2412+224del
XM_011518342.1:c.1974+223_1974+224del	XP_011516644.1:n.1974+223_1974+224del
XM_011518343.1:c.2412+223_2412+224del	XP_011516645.1:n.2412+223_2412+224del
XM_011518344.1:c.2412+223_2412+224del	XP_011516646.1:n.2412+223_2412+224del
XM_005251773.3:c.2337+223_2337+224del	XP_005251830.1:n.2337+223_2337+224del
XM_005251776.3:c.2157+223_2157+224del	XP_005251833.1:n.2157+223_2157+224del
XM_011518339.3:c.2412+223_2412+224del	XP_011516641.1:n.2412+223_2412+224del
XM_011518340.3:c.2412+223_2412+224del	XP_011516642.1:n.2412+223_2412+224del
XM_011518341.3:c.2412+223_2412+224del	XP_011516643.1:n.2412+223_2412+224del
XM_011518342.3:c.1974+223_1974+224del	XP_011516644.1:n.1974+223_1974+224del
XM_011518344.2:c.2412+223_2412+224del	XP_011516646.1:n.2412+223_2412+224del
XM_017014378.2:c.2412+223_2412+224del	XP_016869867.1:n.2412+223_2412+224del
XM_017014379.2:c.2412+223_2412+224del	XP_016869868.1:n.2412+223_2412+224del
XM_017014380.2:c.2412+223_2412+224del	XP_016869869.1:n.2412+223_2412+224del
XM_017014381.2:c.2412+223_2412+224del	XP_016869870.1:n.2412+223_2412+224del
XM_017014382.2:c.2274+223_2274+224del	XP_016869871.1:n.2274+223_2274+224del
XR_001746223.1:n.2725+223_2725+224del
NM_005502.4:c.2337+223_2337+224del MANE Select	NP_005493.2:n.2337+223_2337+224del