Canonical Allele Identifier: CA2691057512

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104884406-A-AAAACCTGATCTGATACTTACATGGATTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884410_104884440dup , CM000671.2:g.104884410_104884440dup	GRCh38
NC_000009.11:g.107646691_107646721dup , CM000671.1:g.107646691_107646721dup	GRCh37
NC_000009.10:g.106686512_106686542dup	NCBI36
NG_007981.1:g.48719_48749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.292_302+20dup
ENST00000678995.1:c.292_302+20dup
ENST00000374733.1:c.112_122+20dup
ENST00000374736.7:c.292_302+20dup
ENST00000423487.6:c.292_302+20dup
NM_005502.3:c.292_302+20dup
XM_005251773.1:c.292_302+20dup
XM_005251776.1:c.112_122+20dup
XM_011518339.1:c.367_377+20dup
XM_011518340.1:c.367_377+20dup
XM_011518341.1:c.367_377+20dup
XM_011518342.1:c.-61-1280_-61-1250dup	XP_011516644.1:n.-61-1280_-61-1250dup
XM_011518343.1:c.367_377+20dup
XM_011518344.1:c.367_377+20dup
XM_005251773.3:c.292_302+20dup
XM_005251776.3:c.112_122+20dup
XM_011518339.3:c.367_377+20dup
XM_011518340.3:c.367_377+20dup
XM_011518341.3:c.367_377+20dup
XM_011518342.3:c.-61-1280_-61-1250dup	XP_011516644.1:n.-61-1280_-61-1250dup
XM_011518344.2:c.367_377+20dup
XM_017014378.2:c.367_377+20dup
XM_017014379.2:c.367_377+20dup
XM_017014380.2:c.367_377+20dup
XM_017014381.2:c.367_377+20dup
XM_017014382.2:c.229_239+20dup
XR_001746223.1:n.680_690+20dup
NM_005502.4:c.292_302+20dup