Canonical Allele Identifier: CA2691053462

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104831771-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831775_104831777del , CM000671.2:g.104831775_104831777del	GRCh38
NC_000009.11:g.107594056_107594058del , CM000671.1:g.107594056_107594058del	GRCh37
NC_000009.10:g.106633877_106633879del	NCBI36
NG_007981.1:g.101382_101384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1563_1565del MANE Select	ENSP00000363868.3:p.Asn521del
ENST00000678995.1:c.1563_1565del	ENSP00000504612.1:p.Asn521del
ENST00000374736.7:c.1563_1565del	ENSP00000363868.3:p.Asn521del
NM_005502.3:c.1563_1565del	NP_005493.2:p.Asn521del
XM_005251773.1:c.1563_1565del	XP_005251830.1:p.Asn521del
XM_005251776.1:c.1383_1385del	XP_005251833.1:p.Asn461del
XM_011518339.1:c.1638_1640del	XP_011516641.1:p.Asn546del
XM_011518340.1:c.1638_1640del	XP_011516642.1:p.Asn546del
XM_011518341.1:c.1638_1640del	XP_011516643.1:p.Asn546del
XM_011518342.1:c.1200_1202del	XP_011516644.1:p.Asn400del
XM_011518343.1:c.1638_1640del	XP_011516645.1:p.Asn546del
XM_011518344.1:c.1638_1640del	XP_011516646.1:p.Asn546del
XM_005251773.3:c.1563_1565del	XP_005251830.1:p.Asn521del
XM_005251776.3:c.1383_1385del	XP_005251833.1:p.Asn461del
XM_011518339.3:c.1638_1640del	XP_011516641.1:p.Asn546del
XM_011518340.3:c.1638_1640del	XP_011516642.1:p.Asn546del
XM_011518341.3:c.1638_1640del	XP_011516643.1:p.Asn546del
XM_011518342.3:c.1200_1202del	XP_011516644.1:p.Asn400del
XM_011518344.2:c.1638_1640del	XP_011516646.1:p.Asn546del
XM_017014378.2:c.1638_1640del	XP_016869867.1:p.Asn546del
XM_017014379.2:c.1638_1640del	XP_016869868.1:p.Asn546del
XM_017014380.2:c.1638_1640del	XP_016869869.1:p.Asn546del
XM_017014381.2:c.1638_1640del	XP_016869870.1:p.Asn546del
XM_017014382.2:c.1500_1502del	XP_016869871.1:p.Asn500del
XR_001746223.1:n.1951_1953del
NM_005502.4:c.1563_1565del MANE Select	NP_005493.2:p.Asn521del