Canonical Allele Identifier: CA1869953750
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1832442341

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104822382_104822383del , CM000671.2:g.104822382_104822383del GRCh38
NC_000009.11:g.107584663_107584664del , CM000671.1:g.107584663_107584664del GRCh37
NC_000009.10:g.106624484_106624485del NCBI36
NG_007981.1:g.110773_110774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.2828+113_2828+114del MANE Select ENSP00000363868.3:n.2828+113_2828+114del
ENST00000678995.1:c.2828+113_2828+114del ENSP00000504612.1:n.2828+113_2828+114del
ENST00000374736.7:c.2828+113_2828+114del ENSP00000363868.3:n.2828+113_2828+114del
NM_005502.3:c.2828+113_2828+114del NP_005493.2:n.2828+113_2828+114del
XM_005251773.1:c.2828+113_2828+114del XP_005251830.1:n.2828+113_2828+114del
XM_005251776.1:c.2648+113_2648+114del XP_005251833.1:n.2648+113_2648+114del
XM_011518339.1:c.2903+113_2903+114del XP_011516641.1:n.2903+113_2903+114del
XM_011518340.1:c.2903+113_2903+114del XP_011516642.1:n.2903+113_2903+114del
XM_011518341.1:c.2903+113_2903+114del XP_011516643.1:n.2903+113_2903+114del
XM_011518342.1:c.2465+113_2465+114del XP_011516644.1:n.2465+113_2465+114del
XM_011518343.1:c.2903+113_2903+114del XP_011516645.1:n.2903+113_2903+114del
XM_011518344.1:c.2903+113_2903+114del XP_011516646.1:n.2903+113_2903+114del
XM_005251773.3:c.2828+113_2828+114del XP_005251830.1:n.2828+113_2828+114del
XM_005251776.3:c.2648+113_2648+114del XP_005251833.1:n.2648+113_2648+114del
XM_011518339.3:c.2903+113_2903+114del XP_011516641.1:n.2903+113_2903+114del
XM_011518340.3:c.2903+113_2903+114del XP_011516642.1:n.2903+113_2903+114del
XM_011518341.3:c.2903+113_2903+114del XP_011516643.1:n.2903+113_2903+114del
XM_011518342.3:c.2465+113_2465+114del XP_011516644.1:n.2465+113_2465+114del
XM_011518344.2:c.2903+113_2903+114del XP_011516646.1:n.2903+113_2903+114del
XM_017014378.2:c.2903+113_2903+114del XP_016869867.1:n.2903+113_2903+114del
XM_017014379.2:c.2903+113_2903+114del XP_016869868.1:n.2903+113_2903+114del
XM_017014380.2:c.2903+113_2903+114del XP_016869869.1:n.2903+113_2903+114del
XM_017014381.2:c.2903+113_2903+114del XP_016869870.1:n.2903+113_2903+114del
XM_017014382.2:c.2765+113_2765+114del XP_016869871.1:n.2765+113_2765+114del
XR_001746223.1:n.3216+113_3216+114del
NM_005502.4:c.2828+113_2828+114del MANE Select NP_005493.2:n.2828+113_2828+114del