Canonical Allele Identifier: CA2691050213

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104790924-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790929del , CM000671.2:g.104790929del	GRCh38
NC_000009.11:g.107553210del , CM000671.1:g.107553210del	GRCh37
NC_000009.10:g.106593031del	NCBI36
NG_007981.1:g.142231del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5924del MANE Select	ENSP00000363868.3:p.Asn1975IlefsTer27
ENST00000678995.1:c.5930del	ENSP00000504612.1:p.Asn1977IlefsTer27
ENST00000374736.7:c.5924del	ENSP00000363868.3:p.Asn1975IlefsTer27
NM_005502.3:c.5924del	NP_005493.2:p.Asn1975IlefsTer27
XM_005251773.1:c.5930del	XP_005251830.1:p.Asn1977IlefsTer27
XM_005251776.1:c.5750del	XP_005251833.1:p.Asn1917IlefsTer27
XM_011518339.1:c.6005del	XP_011516641.1:p.Asn2002IlefsTer27
XM_011518340.1:c.6005del	XP_011516642.1:p.Asn2002IlefsTer27
XM_011518341.1:c.5999del	XP_011516643.1:p.Asn2000IlefsTer27
XM_011518342.1:c.5567del	XP_011516644.1:p.Asn1856IlefsTer27
XM_011518343.1:c.6005del	XP_011516645.1:p.Asn2002IlefsTer27
XM_005251773.3:c.5930del	XP_005251830.1:p.Asn1977IlefsTer27
XM_005251776.3:c.5750del	XP_005251833.1:p.Asn1917IlefsTer27
XM_011518339.3:c.6005del	XP_011516641.1:p.Asn2002IlefsTer27
XM_011518340.3:c.6005del	XP_011516642.1:p.Asn2002IlefsTer27
XM_011518341.3:c.5999del	XP_011516643.1:p.Asn2000IlefsTer27
XM_011518342.3:c.5567del	XP_011516644.1:p.Asn1856IlefsTer27
XM_017014378.2:c.6005del	XP_016869867.1:p.Asn2002IlefsTer27
XM_017014379.2:c.6005del	XP_016869868.1:p.Asn2002IlefsTer27
XM_017014380.2:c.6005del	XP_016869869.1:p.Asn2002IlefsTer27
XM_017014381.2:c.6005del	XP_016869870.1:p.Asn2002IlefsTer27
XM_017014382.2:c.5867del	XP_016869871.1:p.Asn1956IlefsTer27
XR_001746223.1:n.6318del
NM_005502.4:c.5924del MANE Select	NP_005493.2:p.Asn1975IlefsTer27