Canonical Allele Identifier: CA2697557978

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 2683744
• ClinVar RCV Id: RCV003482190

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104830959_104830960delinsAT , CM000671.2:g.104830959_104830960delinsAT	GRCh38
NC_000009.11:g.107593240_107593241delinsAT , CM000671.1:g.107593240_107593241delinsAT	GRCh37
NC_000009.10:g.106633061_106633062delinsAT	NCBI36
NG_007981.1:g.102196_102197delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1857_1858delinsAT MANE Select	ENSP00000363868.3:p.Met619IlefsTer2
ENST00000678995.1:c.1857_1858delinsAT	ENSP00000504612.1:p.Met619IlefsTer2
ENST00000374736.7:c.1857_1858delinsAT	ENSP00000363868.3:p.Met619IlefsTer2
ENST00000494467.1:n.30_31delinsAT
NM_005502.3:c.1857_1858delinsAT	NP_005493.2:p.Met619IlefsTer2
XM_005251773.1:c.1857_1858delinsAT	XP_005251830.1:p.Met619IlefsTer2
XM_005251776.1:c.1677_1678delinsAT	XP_005251833.1:p.Met559IlefsTer2
XM_011518339.1:c.1932_1933delinsAT	XP_011516641.1:p.Met644IlefsTer2
XM_011518340.1:c.1932_1933delinsAT	XP_011516642.1:p.Met644IlefsTer2
XM_011518341.1:c.1932_1933delinsAT	XP_011516643.1:p.Met644IlefsTer2
XM_011518342.1:c.1494_1495delinsAT	XP_011516644.1:p.Met498IlefsTer2
XM_011518343.1:c.1932_1933delinsAT	XP_011516645.1:p.Met644IlefsTer2
XM_011518344.1:c.1932_1933delinsAT	XP_011516646.1:p.Met644IlefsTer2
XM_005251773.3:c.1857_1858delinsAT	XP_005251830.1:p.Met619IlefsTer2
XM_005251776.3:c.1677_1678delinsAT	XP_005251833.1:p.Met559IlefsTer2
XM_011518339.3:c.1932_1933delinsAT	XP_011516641.1:p.Met644IlefsTer2
XM_011518340.3:c.1932_1933delinsAT	XP_011516642.1:p.Met644IlefsTer2
XM_011518341.3:c.1932_1933delinsAT	XP_011516643.1:p.Met644IlefsTer2
XM_011518342.3:c.1494_1495delinsAT	XP_011516644.1:p.Met498IlefsTer2
XM_011518344.2:c.1932_1933delinsAT	XP_011516646.1:p.Met644IlefsTer2
XM_017014378.2:c.1932_1933delinsAT	XP_016869867.1:p.Met644IlefsTer2
XM_017014379.2:c.1932_1933delinsAT	XP_016869868.1:p.Met644IlefsTer2
XM_017014380.2:c.1932_1933delinsAT	XP_016869869.1:p.Met644IlefsTer2
XM_017014381.2:c.1932_1933delinsAT	XP_016869870.1:p.Met644IlefsTer2
XM_017014382.2:c.1794_1795delinsAT	XP_016869871.1:p.Met598IlefsTer2
XR_001746223.1:n.2245_2246delinsAT
NM_005502.4:c.1857_1858delinsAT MANE Select	NP_005493.2:p.Met619IlefsTer2