Canonical Allele Identifier: CA589855382

Gene: ABCA1

Linked Data

• dbSNP Id: rs1304602149
• gnomAD v2: 9-107676843-TACA-T
• gnomAD v3: 9-104914562-TACA-T
• gnomAD v4: 9-104914562-TACA-T
• MyVariant Identifiers: chr9:g.107676844_107676846del (hg19) ; chr9:g.104914563_104914565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104914564_104914566del , CM000671.2:g.104914564_104914566del	GRCh38
NC_000009.11:g.107676845_107676847del , CM000671.1:g.107676845_107676847del	GRCh37
NC_000009.10:g.106716666_106716668del	NCBI36
NG_007981.1:g.18591_18593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-92-10794_-92-10792del MANE Select	ENSP00000363868.3:n.-92-10794_-92-10792del
ENST00000678995.1:c.-92-10794_-92-10792del	ENSP00000504612.1:n.-92-10794_-92-10792del
ENST00000374733.1:c.-115+13370_-115+13372del	ENSP00000363865.1:n.-115+13370_-115+13372del
ENST00000374736.7:c.-92-10794_-92-10792del	ENSP00000363868.3:n.-92-10794_-92-10792del
ENST00000423487.6:c.-92-10794_-92-10792del	ENSP00000416623.2:n.-92-10794_-92-10792del
NM_005502.3:c.-92-10794_-92-10792del	NP_005493.2:n.-92-10794_-92-10792del
XM_005251773.1:c.-92-10794_-92-10792del	XP_005251830.1:n.-92-10794_-92-10792del
XM_005251776.1:c.-115+13370_-115+13372del	XP_005251833.1:n.-115+13370_-115+13372del
XM_011518339.1:c.-92-10794_-92-10792del	XP_011516641.1:n.-92-10794_-92-10792del
XM_011518341.1:c.-92-10794_-92-10792del	XP_011516643.1:n.-92-10794_-92-10792del
XM_011518342.1:c.-156+13370_-156+13372del	XP_011516644.1:n.-156+13370_-156+13372del
XM_011518343.1:c.-92-10794_-92-10792del	XP_011516645.1:n.-92-10794_-92-10792del
XM_011518344.1:c.-92-10794_-92-10792del	XP_011516646.1:n.-92-10794_-92-10792del
XR_428585.2:n.999-4098_999-4096del
XR_428586.2:n.999-4098_999-4096del
XR_428587.2:n.20+2224_20+2226del
XM_005251773.3:c.-92-10794_-92-10792del	XP_005251830.1:n.-92-10794_-92-10792del
XM_005251776.3:c.-115+13370_-115+13372del	XP_005251833.1:n.-115+13370_-115+13372del
XM_011518339.3:c.-92-10794_-92-10792del	XP_011516641.1:n.-92-10794_-92-10792del
XM_011518341.3:c.-92-10794_-92-10792del	XP_011516643.1:n.-92-10794_-92-10792del
XM_011518342.3:c.-156+13370_-156+13372del	XP_011516644.1:n.-156+13370_-156+13372del
XM_011518344.2:c.-92-10794_-92-10792del	XP_011516646.1:n.-92-10794_-92-10792del
XR_001746223.1:n.222-10794_222-10792del
NM_005502.4:c.-92-10794_-92-10792del MANE Select	NP_005493.2:n.-92-10794_-92-10792del