Canonical Allele Identifier: CA858080404

Gene: ABCA1

Linked Data

• dbSNP Id: rs1396444781
• MyVariant Identifiers: chr9:g.107677157_107677160del (hg19) ; chr9:g.104914876_104914879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104914878_104914881del , CM000671.2:g.104914878_104914881del	GRCh38
NC_000009.11:g.107677159_107677162del , CM000671.1:g.107677159_107677162del	GRCh37
NC_000009.10:g.106716980_106716983del	NCBI36
NG_007981.1:g.18277_18280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-92-11108_-92-11105del MANE Select	ENSP00000363868.3:n.-92-11108_-92-11105del
ENST00000678995.1:c.-92-11108_-92-11105del	ENSP00000504612.1:n.-92-11108_-92-11105del
ENST00000374733.1:c.-115+13056_-115+13059del	ENSP00000363865.1:n.-115+13056_-115+13059del
ENST00000374736.7:c.-92-11108_-92-11105del	ENSP00000363868.3:n.-92-11108_-92-11105del
ENST00000423487.6:c.-92-11108_-92-11105del	ENSP00000416623.2:n.-92-11108_-92-11105del
NM_005502.3:c.-92-11108_-92-11105del	NP_005493.2:n.-92-11108_-92-11105del
XM_005251773.1:c.-92-11108_-92-11105del	XP_005251830.1:n.-92-11108_-92-11105del
XM_005251776.1:c.-115+13056_-115+13059del	XP_005251833.1:n.-115+13056_-115+13059del
XM_011518339.1:c.-92-11108_-92-11105del	XP_011516641.1:n.-92-11108_-92-11105del
XM_011518341.1:c.-92-11108_-92-11105del	XP_011516643.1:n.-92-11108_-92-11105del
XM_011518342.1:c.-156+13056_-156+13059del	XP_011516644.1:n.-156+13056_-156+13059del
XM_011518343.1:c.-92-11108_-92-11105del	XP_011516645.1:n.-92-11108_-92-11105del
XM_011518344.1:c.-92-11108_-92-11105del	XP_011516646.1:n.-92-11108_-92-11105del
XR_428585.2:n.999-3784_999-3781del
XR_428586.2:n.999-3784_999-3781del
XR_428587.2:n.20+2538_20+2541del
XM_005251773.3:c.-92-11108_-92-11105del	XP_005251830.1:n.-92-11108_-92-11105del
XM_005251776.3:c.-115+13056_-115+13059del	XP_005251833.1:n.-115+13056_-115+13059del
XM_011518339.3:c.-92-11108_-92-11105del	XP_011516641.1:n.-92-11108_-92-11105del
XM_011518341.3:c.-92-11108_-92-11105del	XP_011516643.1:n.-92-11108_-92-11105del
XM_011518342.3:c.-156+13056_-156+13059del	XP_011516644.1:n.-156+13056_-156+13059del
XM_011518344.2:c.-92-11108_-92-11105del	XP_011516646.1:n.-92-11108_-92-11105del
XR_001746223.1:n.222-11108_222-11105del
NM_005502.4:c.-92-11108_-92-11105del MANE Select	NP_005493.2:n.-92-11108_-92-11105del