Canonical Allele Identifier: CA2580079319

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1694004
• ClinVar RCV Id: RCV002261873
• dbSNP Id: rs2119004064

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104830967_104830968delinsGA , CM000671.2:g.104830967_104830968delinsGA	GRCh38
NC_000009.11:g.107593248_107593249delinsGA , CM000671.1:g.107593248_107593249delinsGA	GRCh37
NC_000009.10:g.106633069_106633070delinsGA	NCBI36
NG_007981.1:g.102188_102189delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1849_1850delinsTC MANE Select	ENSP00000363868.3:p.Val617Ser
ENST00000678995.1:c.1849_1850delinsTC	ENSP00000504612.1:p.Val617Ser
ENST00000374736.7:c.1849_1850delinsTC	ENSP00000363868.3:p.Val617Ser
ENST00000494467.1:n.22_23delinsTC
NM_005502.3:c.1849_1850delinsTC	NP_005493.2:p.Val617Ser
XM_005251773.1:c.1849_1850delinsTC	XP_005251830.1:p.Val617Ser
XM_005251776.1:c.1669_1670delinsTC	XP_005251833.1:p.Val557Ser
XM_011518339.1:c.1924_1925delinsTC	XP_011516641.1:p.Val642Ser
XM_011518340.1:c.1924_1925delinsTC	XP_011516642.1:p.Val642Ser
XM_011518341.1:c.1924_1925delinsTC	XP_011516643.1:p.Val642Ser
XM_011518342.1:c.1486_1487delinsTC	XP_011516644.1:p.Val496Ser
XM_011518343.1:c.1924_1925delinsTC	XP_011516645.1:p.Val642Ser
XM_011518344.1:c.1924_1925delinsTC	XP_011516646.1:p.Val642Ser
XM_005251773.3:c.1849_1850delinsTC	XP_005251830.1:p.Val617Ser
XM_005251776.3:c.1669_1670delinsTC	XP_005251833.1:p.Val557Ser
XM_011518339.3:c.1924_1925delinsTC	XP_011516641.1:p.Val642Ser
XM_011518340.3:c.1924_1925delinsTC	XP_011516642.1:p.Val642Ser
XM_011518341.3:c.1924_1925delinsTC	XP_011516643.1:p.Val642Ser
XM_011518342.3:c.1486_1487delinsTC	XP_011516644.1:p.Val496Ser
XM_011518344.2:c.1924_1925delinsTC	XP_011516646.1:p.Val642Ser
XM_017014378.2:c.1924_1925delinsTC	XP_016869867.1:p.Val642Ser
XM_017014379.2:c.1924_1925delinsTC	XP_016869868.1:p.Val642Ser
XM_017014380.2:c.1924_1925delinsTC	XP_016869869.1:p.Val642Ser
XM_017014381.2:c.1924_1925delinsTC	XP_016869870.1:p.Val642Ser
XM_017014382.2:c.1786_1787delinsTC	XP_016869871.1:p.Val596Ser
XR_001746223.1:n.2237_2238delinsTC
NM_005502.4:c.1849_1850delinsTC MANE Select	NP_005493.2:p.Val617Ser