Canonical Allele Identifier: CA197383286

Gene: ABCA1

Linked Data

• dbSNP Id: rs34250431
• MyVariant Identifiers: chr9:g.107646754_107646755insG (hg19) ; chr9:g.104884473_104884474insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884473_104884474insG , CM000671.2:g.104884473_104884474insG	GRCh38
NC_000009.11:g.107646754_107646755insG , CM000671.1:g.107646754_107646755insG	GRCh37
NC_000009.10:g.106686575_106686576insG	NCBI36
NG_007981.1:g.48682_48683insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.255_256insC MANE Select	ENSP00000363868.3:p.Thr86HisfsTer13
ENST00000678995.1:c.255_256insC	ENSP00000504612.1:p.Thr86HisfsTer13
ENST00000374733.1:c.75_76insC	ENSP00000363865.1:p.Thr26HisfsTer13
ENST00000374736.7:c.255_256insC	ENSP00000363868.3:p.Thr86HisfsTer13
ENST00000423487.6:c.255_256insC	ENSP00000416623.2:p.Thr86HisfsTer13
NM_005502.3:c.255_256insC	NP_005493.2:p.Thr86HisfsTer13
XM_005251773.1:c.255_256insC	XP_005251830.1:p.Thr86HisfsTer13
XM_005251776.1:c.75_76insC	XP_005251833.1:p.Thr26HisfsTer13
XM_011518339.1:c.330_331insC	XP_011516641.1:p.Thr111HisfsTer13
XM_011518340.1:c.330_331insC	XP_011516642.1:p.Thr111HisfsTer13
XM_011518341.1:c.330_331insC	XP_011516643.1:p.Thr111HisfsTer13
XM_011518342.1:c.-61-1317_-61-1316insC	XP_011516644.1:n.-61-1317_-61-1316insC
XM_011518343.1:c.330_331insC	XP_011516645.1:p.Thr111HisfsTer13
XM_011518344.1:c.330_331insC	XP_011516646.1:p.Thr111HisfsTer13
XM_005251773.3:c.255_256insC	XP_005251830.1:p.Thr86HisfsTer13
XM_005251776.3:c.75_76insC	XP_005251833.1:p.Thr26HisfsTer13
XM_011518339.3:c.330_331insC	XP_011516641.1:p.Thr111HisfsTer13
XM_011518340.3:c.330_331insC	XP_011516642.1:p.Thr111HisfsTer13
XM_011518341.3:c.330_331insC	XP_011516643.1:p.Thr111HisfsTer13
XM_011518342.3:c.-61-1317_-61-1316insC	XP_011516644.1:n.-61-1317_-61-1316insC
XM_011518344.2:c.330_331insC	XP_011516646.1:p.Thr111HisfsTer13
XM_017014378.2:c.330_331insC	XP_016869867.1:p.Thr111HisfsTer13
XM_017014379.2:c.330_331insC	XP_016869868.1:p.Thr111HisfsTer13
XM_017014380.2:c.330_331insC	XP_016869869.1:p.Thr111HisfsTer13
XM_017014381.2:c.330_331insC	XP_016869870.1:p.Thr111HisfsTer13
XM_017014382.2:c.192_193insC	XP_016869871.1:p.Thr65HisfsTer13
XR_001746223.1:n.643_644insC
NM_005502.4:c.255_256insC MANE Select	NP_005493.2:p.Thr86HisfsTer13