Canonical Allele Identifier: CA2691051751

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104806104-CAGAAAAAAAAACAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806106_104806122del , CM000671.2:g.104806106_104806122del	GRCh38
NC_000009.11:g.107568387_107568403del , CM000671.1:g.107568387_107568403del	GRCh37
NC_000009.10:g.106608208_106608224del	NCBI36
NG_007981.1:g.127035_127051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4464+120_4464+136del MANE Select	ENSP00000363868.3:n.4464+120_4464+136del
ENST00000678995.1:c.4470+120_4470+136del	ENSP00000504612.1:n.4470+120_4470+136del
ENST00000374736.7:c.4464+120_4464+136del	ENSP00000363868.3:n.4464+120_4464+136del
NM_005502.3:c.4464+120_4464+136del	NP_005493.2:n.4464+120_4464+136del
XM_005251773.1:c.4470+120_4470+136del	XP_005251830.1:n.4470+120_4470+136del
XM_005251776.1:c.4290+120_4290+136del	XP_005251833.1:n.4290+120_4290+136del
XM_011518339.1:c.4545+120_4545+136del	XP_011516641.1:n.4545+120_4545+136del
XM_011518340.1:c.4545+120_4545+136del	XP_011516642.1:n.4545+120_4545+136del
XM_011518341.1:c.4539+120_4539+136del	XP_011516643.1:n.4539+120_4539+136del
XM_011518342.1:c.4107+120_4107+136del	XP_011516644.1:n.4107+120_4107+136del
XM_011518343.1:c.4545+120_4545+136del	XP_011516645.1:n.4545+120_4545+136del
XM_011518344.1:c.4545+120_4545+136del	XP_011516646.1:n.4545+120_4545+136del
XM_005251773.3:c.4470+120_4470+136del	XP_005251830.1:n.4470+120_4470+136del
XM_005251776.3:c.4290+120_4290+136del	XP_005251833.1:n.4290+120_4290+136del
XM_011518339.3:c.4545+120_4545+136del	XP_011516641.1:n.4545+120_4545+136del
XM_011518340.3:c.4545+120_4545+136del	XP_011516642.1:n.4545+120_4545+136del
XM_011518341.3:c.4539+120_4539+136del	XP_011516643.1:n.4539+120_4539+136del
XM_011518342.3:c.4107+120_4107+136del	XP_011516644.1:n.4107+120_4107+136del
XM_011518344.2:c.4545+120_4545+136del	XP_011516646.1:n.4545+120_4545+136del
XM_017014378.2:c.4545+120_4545+136del	XP_016869867.1:n.4545+120_4545+136del
XM_017014379.2:c.4545+120_4545+136del	XP_016869868.1:n.4545+120_4545+136del
XM_017014380.2:c.4545+120_4545+136del	XP_016869869.1:n.4545+120_4545+136del
XM_017014381.2:c.4545+120_4545+136del	XP_016869870.1:n.4545+120_4545+136del
XM_017014382.2:c.4407+120_4407+136del	XP_016869871.1:n.4407+120_4407+136del
XR_001746223.1:n.4858+120_4858+136del
NM_005502.4:c.4464+120_4464+136del MANE Select	NP_005493.2:n.4464+120_4464+136del