Canonical Allele Identifier: CA1869925683
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104831700_104831702delinsATG , CM000671.2:g.104831700_104831702delinsATG GRCh38
NC_000009.11:g.107593981_107593983delinsATG , CM000671.1:g.107593981_107593983delinsATG GRCh37
NC_000009.10:g.106633802_106633804delinsATG NCBI36
NG_007981.1:g.101454_101456delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.1635_1637delinsCAT MANE Select ENSP00000363868.3:p.Ser545=
ENST00000678995.1:c.1635_1637delinsCAT ENSP00000504612.1:p.Ser545=
ENST00000374736.7:c.1635_1637delinsCAT ENSP00000363868.3:p.Ser545=
NM_005502.3:c.1635_1637delinsCAT NP_005493.2:p.Ser545=
XM_005251773.1:c.1635_1637delinsCAT XP_005251830.1:p.Ser545=
XM_005251776.1:c.1455_1457delinsCAT XP_005251833.1:p.Ser485=
XM_011518339.1:c.1710_1712delinsCAT XP_011516641.1:p.Ser570=
XM_011518340.1:c.1710_1712delinsCAT XP_011516642.1:p.Ser570=
XM_011518341.1:c.1710_1712delinsCAT XP_011516643.1:p.Ser570=
XM_011518342.1:c.1272_1274delinsCAT XP_011516644.1:p.Ser424=
XM_011518343.1:c.1710_1712delinsCAT XP_011516645.1:p.Ser570=
XM_011518344.1:c.1710_1712delinsCAT XP_011516646.1:p.Ser570=
XM_005251773.3:c.1635_1637delinsCAT XP_005251830.1:p.Ser545=
XM_005251776.3:c.1455_1457delinsCAT XP_005251833.1:p.Ser485=
XM_011518339.3:c.1710_1712delinsCAT XP_011516641.1:p.Ser570=
XM_011518340.3:c.1710_1712delinsCAT XP_011516642.1:p.Ser570=
XM_011518341.3:c.1710_1712delinsCAT XP_011516643.1:p.Ser570=
XM_011518342.3:c.1272_1274delinsCAT XP_011516644.1:p.Ser424=
XM_011518344.2:c.1710_1712delinsCAT XP_011516646.1:p.Ser570=
XM_017014378.2:c.1710_1712delinsCAT XP_016869867.1:p.Ser570=
XM_017014379.2:c.1710_1712delinsCAT XP_016869868.1:p.Ser570=
XM_017014380.2:c.1710_1712delinsCAT XP_016869869.1:p.Ser570=
XM_017014381.2:c.1710_1712delinsCAT XP_016869870.1:p.Ser570=
XM_017014382.2:c.1572_1574delinsCAT XP_016869871.1:p.Ser524=
XR_001746223.1:n.2023_2025delinsCAT
NM_005502.4:c.1635_1637delinsCAT MANE Select NP_005493.2:p.Ser545=