Canonical Allele Identifier: CA2691057519

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104884481-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884482_104884483del , CM000671.2:g.104884482_104884483del	GRCh38
NC_000009.11:g.107646763_107646764del , CM000671.1:g.107646763_107646764del	GRCh37
NC_000009.10:g.106686584_106686585del	NCBI36
NG_007981.1:g.48673_48674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.246_247del MANE Select	ENSP00000363868.3:p.Phe82LeufsTer16
ENST00000678995.1:c.246_247del	ENSP00000504612.1:p.Phe82LeufsTer16
ENST00000374733.1:c.66_67del	ENSP00000363865.1:p.Phe22LeufsTer16
ENST00000374736.7:c.246_247del	ENSP00000363868.3:p.Phe82LeufsTer16
ENST00000423487.6:c.246_247del	ENSP00000416623.2:p.Phe82LeufsTer16
NM_005502.3:c.246_247del	NP_005493.2:p.Phe82LeufsTer16
XM_005251773.1:c.246_247del	XP_005251830.1:p.Phe82LeufsTer16
XM_005251776.1:c.66_67del	XP_005251833.1:p.Phe22LeufsTer16
XM_011518339.1:c.321_322del	XP_011516641.1:p.Phe107LeufsTer16
XM_011518340.1:c.321_322del	XP_011516642.1:p.Phe107LeufsTer16
XM_011518341.1:c.321_322del	XP_011516643.1:p.Phe107LeufsTer16
XM_011518342.1:c.-61-1326_-61-1325del	XP_011516644.1:n.-61-1326_-61-1325del
XM_011518343.1:c.321_322del	XP_011516645.1:p.Phe107LeufsTer16
XM_011518344.1:c.321_322del	XP_011516646.1:p.Phe107LeufsTer16
XM_005251773.3:c.246_247del	XP_005251830.1:p.Phe82LeufsTer16
XM_005251776.3:c.66_67del	XP_005251833.1:p.Phe22LeufsTer16
XM_011518339.3:c.321_322del	XP_011516641.1:p.Phe107LeufsTer16
XM_011518340.3:c.321_322del	XP_011516642.1:p.Phe107LeufsTer16
XM_011518341.3:c.321_322del	XP_011516643.1:p.Phe107LeufsTer16
XM_011518342.3:c.-61-1326_-61-1325del	XP_011516644.1:n.-61-1326_-61-1325del
XM_011518344.2:c.321_322del	XP_011516646.1:p.Phe107LeufsTer16
XM_017014378.2:c.321_322del	XP_016869867.1:p.Phe107LeufsTer16
XM_017014379.2:c.321_322del	XP_016869868.1:p.Phe107LeufsTer16
XM_017014380.2:c.321_322del	XP_016869869.1:p.Phe107LeufsTer16
XM_017014381.2:c.321_322del	XP_016869870.1:p.Phe107LeufsTer16
XM_017014382.2:c.183_184del	XP_016869871.1:p.Phe61LeufsTer16
XR_001746223.1:n.634_635del
NM_005502.4:c.246_247del MANE Select	NP_005493.2:p.Phe82LeufsTer16