Canonical Allele Identifier: CA2691050648

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104798584-A-ACTGATGTGGTCATCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798585_104798600dup , CM000671.2:g.104798585_104798600dup	GRCh38
NC_000009.11:g.107560866_107560881dup , CM000671.1:g.107560866_107560881dup	GRCh37
NC_000009.10:g.106600687_106600702dup	NCBI36
NG_007981.1:g.134556_134571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4944-2_4957dup
ENST00000678995.1:c.4950-2_4963dup
ENST00000374736.7:c.4944-2_4957dup
NM_005502.3:c.4944-2_4957dup
XM_005251773.1:c.4950-2_4963dup
XM_005251776.1:c.4770-2_4783dup
XM_011518339.1:c.5025-2_5038dup
XM_011518340.1:c.5025-2_5038dup
XM_011518341.1:c.5019-2_5032dup
XM_011518342.1:c.4587-2_4600dup
XM_011518343.1:c.5025-2_5038dup
XM_005251773.3:c.4950-2_4963dup
XM_005251776.3:c.4770-2_4783dup
XM_011518339.3:c.5025-2_5038dup
XM_011518340.3:c.5025-2_5038dup
XM_011518341.3:c.5019-2_5032dup
XM_011518342.3:c.4587-2_4600dup
XM_017014378.2:c.5025-2_5038dup
XM_017014379.2:c.5025-2_5038dup
XM_017014380.2:c.5025-2_5038dup
XM_017014381.2:c.5025-2_5038dup
XM_017014382.2:c.4887-2_4900dup
XR_001746223.1:n.5338-2_5351dup
NM_005502.4:c.4944-2_4957dup