Canonical Allele Identifier: CA2691057556
Gene: ABCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104884679_104884686del , CM000671.2:g.104884679_104884686del GRCh38
NC_000009.11:g.107646960_107646967del , CM000671.1:g.107646960_107646967del GRCh37
NC_000009.10:g.106686781_106686788del NCBI36
NG_007981.1:g.48474_48481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.161-114_161-107del MANE Select ENSP00000363868.3:n.161-114_161-107del
ENST00000678995.1:c.161-114_161-107del ENSP00000504612.1:n.161-114_161-107del
ENST00000374733.1:c.-20-114_-20-107del ENSP00000363865.1:n.-20-114_-20-107del
ENST00000374736.7:c.161-114_161-107del ENSP00000363868.3:n.161-114_161-107del
ENST00000423487.6:c.161-114_161-107del ENSP00000416623.2:n.161-114_161-107del
NM_005502.3:c.161-114_161-107del NP_005493.2:n.161-114_161-107del
XM_005251773.1:c.161-114_161-107del XP_005251830.1:n.161-114_161-107del
XM_005251776.1:c.-20-114_-20-107del XP_005251833.1:n.-20-114_-20-107del
XM_011518339.1:c.236-114_236-107del XP_011516641.1:n.236-114_236-107del
XM_011518340.1:c.236-114_236-107del XP_011516642.1:n.236-114_236-107del
XM_011518341.1:c.236-114_236-107del XP_011516643.1:n.236-114_236-107del
XM_011518342.1:c.-61-1525_-61-1518del XP_011516644.1:n.-61-1525_-61-1518del
XM_011518343.1:c.236-114_236-107del XP_011516645.1:n.236-114_236-107del
XM_011518344.1:c.236-114_236-107del XP_011516646.1:n.236-114_236-107del
XM_005251773.3:c.161-114_161-107del XP_005251830.1:n.161-114_161-107del
XM_005251776.3:c.-20-114_-20-107del XP_005251833.1:n.-20-114_-20-107del
XM_011518339.3:c.236-114_236-107del XP_011516641.1:n.236-114_236-107del
XM_011518340.3:c.236-114_236-107del XP_011516642.1:n.236-114_236-107del
XM_011518341.3:c.236-114_236-107del XP_011516643.1:n.236-114_236-107del
XM_011518342.3:c.-61-1525_-61-1518del XP_011516644.1:n.-61-1525_-61-1518del
XM_011518344.2:c.236-114_236-107del XP_011516646.1:n.236-114_236-107del
XM_017014378.2:c.236-114_236-107del XP_016869867.1:n.236-114_236-107del
XM_017014379.2:c.236-114_236-107del XP_016869868.1:n.236-114_236-107del
XM_017014380.2:c.236-114_236-107del XP_016869869.1:n.236-114_236-107del
XM_017014381.2:c.236-114_236-107del XP_016869870.1:n.236-114_236-107del
XM_017014382.2:c.98-114_98-107del XP_016869871.1:n.98-114_98-107del
XR_001746223.1:n.549-114_549-107del
NM_005502.4:c.161-114_161-107del MANE Select NP_005493.2:n.161-114_161-107del