Canonical Allele Identifier: CA590046403

Gene: ABCA1

Linked Data

• dbSNP Id: rs1295357669
• gnomAD v2: 9-107560524-A-AAG
• gnomAD v3: 9-104798243-A-AAG
• gnomAD v4: 9-104798243-A-AAG
• MyVariant Identifiers: chr9:g.107560524_107560525insAG (hg19) ; chr9:g.104798243_104798244insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798243_104798244insAG , CM000671.2:g.104798243_104798244insAG	GRCh38
NC_000009.11:g.107560524_107560525insAG , CM000671.1:g.107560524_107560525insAG	GRCh37
NC_000009.10:g.106600345_106600346insAG	NCBI36
NG_007981.1:g.134912_134913insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5121+177_5121+178insCT MANE Select	ENSP00000363868.3:n.5121+177_5121+178insCT
ENST00000678995.1:c.5127+177_5127+178insCT	ENSP00000504612.1:n.5127+177_5127+178insCT
ENST00000374736.7:c.5121+177_5121+178insCT	ENSP00000363868.3:n.5121+177_5121+178insCT
NM_005502.3:c.5121+177_5121+178insCT	NP_005493.2:n.5121+177_5121+178insCT
XM_005251773.1:c.5127+177_5127+178insCT	XP_005251830.1:n.5127+177_5127+178insCT
XM_005251776.1:c.4947+177_4947+178insCT	XP_005251833.1:n.4947+177_4947+178insCT
XM_011518339.1:c.5202+177_5202+178insCT	XP_011516641.1:n.5202+177_5202+178insCT
XM_011518340.1:c.5202+177_5202+178insCT	XP_011516642.1:n.5202+177_5202+178insCT
XM_011518341.1:c.5196+177_5196+178insCT	XP_011516643.1:n.5196+177_5196+178insCT
XM_011518342.1:c.4764+177_4764+178insCT	XP_011516644.1:n.4764+177_4764+178insCT
XM_011518343.1:c.5202+177_5202+178insCT	XP_011516645.1:n.5202+177_5202+178insCT
XM_005251773.3:c.5127+177_5127+178insCT	XP_005251830.1:n.5127+177_5127+178insCT
XM_005251776.3:c.4947+177_4947+178insCT	XP_005251833.1:n.4947+177_4947+178insCT
XM_011518339.3:c.5202+177_5202+178insCT	XP_011516641.1:n.5202+177_5202+178insCT
XM_011518340.3:c.5202+177_5202+178insCT	XP_011516642.1:n.5202+177_5202+178insCT
XM_011518341.3:c.5196+177_5196+178insCT	XP_011516643.1:n.5196+177_5196+178insCT
XM_011518342.3:c.4764+177_4764+178insCT	XP_011516644.1:n.4764+177_4764+178insCT
XM_017014378.2:c.5202+177_5202+178insCT	XP_016869867.1:n.5202+177_5202+178insCT
XM_017014379.2:c.5202+177_5202+178insCT	XP_016869868.1:n.5202+177_5202+178insCT
XM_017014380.2:c.5202+177_5202+178insCT	XP_016869869.1:n.5202+177_5202+178insCT
XM_017014381.2:c.5202+177_5202+178insCT	XP_016869870.1:n.5202+177_5202+178insCT
XM_017014382.2:c.5064+177_5064+178insCT	XP_016869871.1:n.5064+177_5064+178insCT
XR_001746223.1:n.5515+177_5515+178insCT
NM_005502.4:c.5121+177_5121+178insCT MANE Select	NP_005493.2:n.5121+177_5121+178insCT