Canonical Allele Identifier: CA197355047

Gene: ABCA1

Linked Data

• dbSNP Id: rs867489831
• MyVariant Identifiers: chr9:g.107553204_107553205insA (hg19) ; chr9:g.104790923_104790924insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790924dup , CM000671.2:g.104790924dup	GRCh38
NC_000009.11:g.107553205dup , CM000671.1:g.107553205dup	GRCh37
NC_000009.10:g.106593026dup	NCBI36
NG_007981.1:g.142232dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5925dup MANE Select	ENSP00000363868.3:p.Ser1976Ter
ENST00000678995.1:c.5931dup	ENSP00000504612.1:p.Ser1978Ter
ENST00000374736.7:c.5925dup	ENSP00000363868.3:p.Ser1976Ter
NM_005502.3:c.5925dup	NP_005493.2:p.Ser1976Ter
XM_005251773.1:c.5931dup	XP_005251830.1:p.Ser1978Ter
XM_005251776.1:c.5751dup	XP_005251833.1:p.Ser1918Ter
XM_011518339.1:c.6006dup	XP_011516641.1:p.Ser2003Ter
XM_011518340.1:c.6006dup	XP_011516642.1:p.Ser2003Ter
XM_011518341.1:c.6000dup	XP_011516643.1:p.Ser2001Ter
XM_011518342.1:c.5568dup	XP_011516644.1:p.Ser1857Ter
XM_011518343.1:c.6006dup	XP_011516645.1:p.Ser2003Ter
XM_005251773.3:c.5931dup	XP_005251830.1:p.Ser1978Ter
XM_005251776.3:c.5751dup	XP_005251833.1:p.Ser1918Ter
XM_011518339.3:c.6006dup	XP_011516641.1:p.Ser2003Ter
XM_011518340.3:c.6006dup	XP_011516642.1:p.Ser2003Ter
XM_011518341.3:c.6000dup	XP_011516643.1:p.Ser2001Ter
XM_011518342.3:c.5568dup	XP_011516644.1:p.Ser1857Ter
XM_017014378.2:c.6006dup	XP_016869867.1:p.Ser2003Ter
XM_017014379.2:c.6006dup	XP_016869868.1:p.Ser2003Ter
XM_017014380.2:c.6006dup	XP_016869869.1:p.Ser2003Ter
XM_017014381.2:c.6006dup	XP_016869870.1:p.Ser2003Ter
XM_017014382.2:c.5868dup	XP_016869871.1:p.Ser1957Ter
XR_001746223.1:n.6319dup
NM_005502.4:c.5925dup MANE Select	NP_005493.2:p.Ser1976Ter