Canonical Allele Identifier: CA858047338

Gene: ABCA1

Linked Data

• dbSNP Id: rs1446587722
• gnomAD v3: 9-104826751-TGAG-T
• gnomAD v4: 9-104826751-TGAG-T
• MyVariant Identifiers: chr9:g.107589033_107589035del (hg19) ; chr9:g.104826752_104826754del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104826752_104826754del , CM000671.2:g.104826752_104826754del	GRCh38
NC_000009.11:g.107589033_107589035del , CM000671.1:g.107589033_107589035del	GRCh37
NC_000009.10:g.106628854_106628856del	NCBI36
NG_007981.1:g.106402_106404del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.2337+194_2337+196del MANE Select	ENSP00000363868.3:n.2337+194_2337+196del
ENST00000678995.1:c.2337+194_2337+196del	ENSP00000504612.1:n.2337+194_2337+196del
ENST00000374736.7:c.2337+194_2337+196del	ENSP00000363868.3:n.2337+194_2337+196del
ENST00000494467.1:n.510+194_510+196del
NM_005502.3:c.2337+194_2337+196del	NP_005493.2:n.2337+194_2337+196del
XM_005251773.1:c.2337+194_2337+196del	XP_005251830.1:n.2337+194_2337+196del
XM_005251776.1:c.2157+194_2157+196del	XP_005251833.1:n.2157+194_2157+196del
XM_011518339.1:c.2412+194_2412+196del	XP_011516641.1:n.2412+194_2412+196del
XM_011518340.1:c.2412+194_2412+196del	XP_011516642.1:n.2412+194_2412+196del
XM_011518341.1:c.2412+194_2412+196del	XP_011516643.1:n.2412+194_2412+196del
XM_011518342.1:c.1974+194_1974+196del	XP_011516644.1:n.1974+194_1974+196del
XM_011518343.1:c.2412+194_2412+196del	XP_011516645.1:n.2412+194_2412+196del
XM_011518344.1:c.2412+194_2412+196del	XP_011516646.1:n.2412+194_2412+196del
XM_005251773.3:c.2337+194_2337+196del	XP_005251830.1:n.2337+194_2337+196del
XM_005251776.3:c.2157+194_2157+196del	XP_005251833.1:n.2157+194_2157+196del
XM_011518339.3:c.2412+194_2412+196del	XP_011516641.1:n.2412+194_2412+196del
XM_011518340.3:c.2412+194_2412+196del	XP_011516642.1:n.2412+194_2412+196del
XM_011518341.3:c.2412+194_2412+196del	XP_011516643.1:n.2412+194_2412+196del
XM_011518342.3:c.1974+194_1974+196del	XP_011516644.1:n.1974+194_1974+196del
XM_011518344.2:c.2412+194_2412+196del	XP_011516646.1:n.2412+194_2412+196del
XM_017014378.2:c.2412+194_2412+196del	XP_016869867.1:n.2412+194_2412+196del
XM_017014379.2:c.2412+194_2412+196del	XP_016869868.1:n.2412+194_2412+196del
XM_017014380.2:c.2412+194_2412+196del	XP_016869869.1:n.2412+194_2412+196del
XM_017014381.2:c.2412+194_2412+196del	XP_016869870.1:n.2412+194_2412+196del
XM_017014382.2:c.2274+194_2274+196del	XP_016869871.1:n.2274+194_2274+196del
XR_001746223.1:n.2725+194_2725+196del
NM_005502.4:c.2337+194_2337+196del MANE Select	NP_005493.2:n.2337+194_2337+196del