Canonical Allele Identifier: CA1869929789

Gene: ABCA1

Linked Data

• dbSNP Id: rs1830759151

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806318_104806319insGG , CM000671.2:g.104806318_104806319insGG	GRCh38
NC_000009.11:g.107568599_107568600insGG , CM000671.1:g.107568599_107568600insGG	GRCh37
NC_000009.10:g.106608420_106608421insGG	NCBI36
NG_007981.1:g.126837_126838insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4386_4387insCC MANE Select	ENSP00000363868.3:p.Cys1463ProfsTer?
ENST00000678995.1:c.4392_4393insCC	ENSP00000504612.1:p.Cys1465ProfsTer?
ENST00000374736.7:c.4386_4387insCC	ENSP00000363868.3:p.Cys1463ProfsTer?
NM_005502.3:c.4386_4387insCC	NP_005493.2:p.Cys1463ProfsTer?
XM_005251773.1:c.4392_4393insCC	XP_005251830.1:p.Cys1465ProfsTer?
XM_005251776.1:c.4212_4213insCC	XP_005251833.1:p.Cys1405ProfsTer?
XM_011518339.1:c.4467_4468insCC	XP_011516641.1:p.Cys1490ProfsTer?
XM_011518340.1:c.4467_4468insCC	XP_011516642.1:p.Cys1490ProfsTer?
XM_011518341.1:c.4461_4462insCC	XP_011516643.1:p.Cys1488ProfsTer?
XM_011518342.1:c.4029_4030insCC	XP_011516644.1:p.Cys1344ProfsTer?
XM_011518343.1:c.4467_4468insCC	XP_011516645.1:p.Cys1490ProfsTer?
XM_011518344.1:c.4467_4468insCC	XP_011516646.1:p.Cys1490ProfsTer?
XM_005251773.3:c.4392_4393insCC	XP_005251830.1:p.Cys1465ProfsTer?
XM_005251776.3:c.4212_4213insCC	XP_005251833.1:p.Cys1405ProfsTer?
XM_011518339.3:c.4467_4468insCC	XP_011516641.1:p.Cys1490ProfsTer?
XM_011518340.3:c.4467_4468insCC	XP_011516642.1:p.Cys1490ProfsTer?
XM_011518341.3:c.4461_4462insCC	XP_011516643.1:p.Cys1488ProfsTer?
XM_011518342.3:c.4029_4030insCC	XP_011516644.1:p.Cys1344ProfsTer?
XM_011518344.2:c.4467_4468insCC	XP_011516646.1:p.Cys1490ProfsTer?
XM_017014378.2:c.4467_4468insCC	XP_016869867.1:p.Cys1490ProfsTer?
XM_017014379.2:c.4467_4468insCC	XP_016869868.1:p.Cys1490ProfsTer?
XM_017014380.2:c.4467_4468insCC	XP_016869869.1:p.Cys1490ProfsTer?
XM_017014381.2:c.4467_4468insCC	XP_016869870.1:p.Cys1490ProfsTer?
XM_017014382.2:c.4329_4330insCC	XP_016869871.1:p.Cys1444ProfsTer?
XR_001746223.1:n.4780_4781insCC
NM_005502.4:c.4386_4387insCC MANE Select	NP_005493.2:p.Cys1463ProfsTer?