Canonical Allele Identifier: CA858051327

Gene: ABCA1

Linked Data

• dbSNP Id: rs1220060891
• gnomAD v3: 9-104831957-CGTA-C
• gnomAD v4: 9-104831957-CGTA-C
• MyVariant Identifiers: chr9:g.107594239_107594241del (hg19) ; chr9:g.104831958_104831960del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831960_104831962del , CM000671.2:g.104831960_104831962del	GRCh38
NC_000009.11:g.107594241_107594243del , CM000671.1:g.107594241_107594243del	GRCh37
NC_000009.10:g.106634062_106634064del	NCBI36
NG_007981.1:g.101196_101198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1510-133_1510-131del MANE Select	ENSP00000363868.3:n.1510-133_1510-131del
ENST00000678995.1:c.1510-133_1510-131del	ENSP00000504612.1:n.1510-133_1510-131del
ENST00000374736.7:c.1510-133_1510-131del	ENSP00000363868.3:n.1510-133_1510-131del
NM_005502.3:c.1510-133_1510-131del	NP_005493.2:n.1510-133_1510-131del
XM_005251773.1:c.1510-133_1510-131del	XP_005251830.1:n.1510-133_1510-131del
XM_005251776.1:c.1330-133_1330-131del	XP_005251833.1:n.1330-133_1330-131del
XM_011518339.1:c.1585-133_1585-131del	XP_011516641.1:n.1585-133_1585-131del
XM_011518340.1:c.1585-133_1585-131del	XP_011516642.1:n.1585-133_1585-131del
XM_011518341.1:c.1585-133_1585-131del	XP_011516643.1:n.1585-133_1585-131del
XM_011518342.1:c.1147-133_1147-131del	XP_011516644.1:n.1147-133_1147-131del
XM_011518343.1:c.1585-133_1585-131del	XP_011516645.1:n.1585-133_1585-131del
XM_011518344.1:c.1585-133_1585-131del	XP_011516646.1:n.1585-133_1585-131del
XM_005251773.3:c.1510-133_1510-131del	XP_005251830.1:n.1510-133_1510-131del
XM_005251776.3:c.1330-133_1330-131del	XP_005251833.1:n.1330-133_1330-131del
XM_011518339.3:c.1585-133_1585-131del	XP_011516641.1:n.1585-133_1585-131del
XM_011518340.3:c.1585-133_1585-131del	XP_011516642.1:n.1585-133_1585-131del
XM_011518341.3:c.1585-133_1585-131del	XP_011516643.1:n.1585-133_1585-131del
XM_011518342.3:c.1147-133_1147-131del	XP_011516644.1:n.1147-133_1147-131del
XM_011518344.2:c.1585-133_1585-131del	XP_011516646.1:n.1585-133_1585-131del
XM_017014378.2:c.1585-133_1585-131del	XP_016869867.1:n.1585-133_1585-131del
XM_017014379.2:c.1585-133_1585-131del	XP_016869868.1:n.1585-133_1585-131del
XM_017014380.2:c.1585-133_1585-131del	XP_016869869.1:n.1585-133_1585-131del
XM_017014381.2:c.1585-133_1585-131del	XP_016869870.1:n.1585-133_1585-131del
XM_017014382.2:c.1447-133_1447-131del	XP_016869871.1:n.1447-133_1447-131del
XR_001746223.1:n.1898-133_1898-131del
NM_005502.4:c.1510-133_1510-131del MANE Select	NP_005493.2:n.1510-133_1510-131del