Canonical Allele Identifier: CA2691057518

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104884441-GTTTCCAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884442_104884450del , CM000671.2:g.104884442_104884450del	GRCh38
NC_000009.11:g.107646723_107646731del , CM000671.1:g.107646723_107646731del	GRCh37
NC_000009.10:g.106686544_106686552del	NCBI36
NG_007981.1:g.48706_48714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.279_287del MANE Select	ENSP00000363868.3:p.Val94_Asn96del
ENST00000678995.1:c.279_287del	ENSP00000504612.1:p.Val94_Asn96del
ENST00000374733.1:c.99_107del	ENSP00000363865.1:p.Val34_Asn36del
ENST00000374736.7:c.279_287del	ENSP00000363868.3:p.Val94_Asn96del
ENST00000423487.6:c.279_287del	ENSP00000416623.2:p.Val94_Asn96del
NM_005502.3:c.279_287del	NP_005493.2:p.Val94_Asn96del
XM_005251773.1:c.279_287del	XP_005251830.1:p.Val94_Asn96del
XM_005251776.1:c.99_107del	XP_005251833.1:p.Val34_Asn36del
XM_011518339.1:c.354_362del	XP_011516641.1:p.Val119_Asn121del
XM_011518340.1:c.354_362del	XP_011516642.1:p.Val119_Asn121del
XM_011518341.1:c.354_362del	XP_011516643.1:p.Val119_Asn121del
XM_011518342.1:c.-61-1293_-61-1285del	XP_011516644.1:n.-61-1293_-61-1285del
XM_011518343.1:c.354_362del	XP_011516645.1:p.Val119_Asn121del
XM_011518344.1:c.354_362del	XP_011516646.1:p.Val119_Asn121del
XM_005251773.3:c.279_287del	XP_005251830.1:p.Val94_Asn96del
XM_005251776.3:c.99_107del	XP_005251833.1:p.Val34_Asn36del
XM_011518339.3:c.354_362del	XP_011516641.1:p.Val119_Asn121del
XM_011518340.3:c.354_362del	XP_011516642.1:p.Val119_Asn121del
XM_011518341.3:c.354_362del	XP_011516643.1:p.Val119_Asn121del
XM_011518342.3:c.-61-1293_-61-1285del	XP_011516644.1:n.-61-1293_-61-1285del
XM_011518344.2:c.354_362del	XP_011516646.1:p.Val119_Asn121del
XM_017014378.2:c.354_362del	XP_016869867.1:p.Val119_Asn121del
XM_017014379.2:c.354_362del	XP_016869868.1:p.Val119_Asn121del
XM_017014380.2:c.354_362del	XP_016869869.1:p.Val119_Asn121del
XM_017014381.2:c.354_362del	XP_016869870.1:p.Val119_Asn121del
XM_017014382.2:c.216_224del	XP_016869871.1:p.Val73_Asn75del
XR_001746223.1:n.667_675del
NM_005502.4:c.279_287del MANE Select	NP_005493.2:p.Val94_Asn96del