Canonical Allele Identifier: CA1127663043
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1826493853

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928077del , CM000671.2:g.104928077del GRCh38
NC_000009.11:g.107690358del , CM000671.1:g.107690358del GRCh37
NC_000009.10:g.106730179del NCBI36
NG_007981.1:g.5081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.-233del MANE Select ENSP00000363868.3:n.-233del
ENST00000678995.1:c.-233del ENSP00000504612.1:n.-233del
ENST00000374733.1:c.-255del ENSP00000363865.1:n.-255del
ENST00000374736.7:c.-233del ENSP00000363868.3:n.-233del
ENST00000423487.6:c.-233del ENSP00000416623.2:n.-233del
NM_005502.3:c.-233del NP_005493.2:n.-233del
XM_005251773.1:c.-233del XP_005251830.1:n.-233del
XM_005251776.1:c.-255del XP_005251833.1:n.-255del
XM_011518339.1:c.-233del XP_011516641.1:n.-233del
XM_011518341.1:c.-233del XP_011516643.1:n.-233del
XM_011518342.1:c.-296del XP_011516644.1:n.-296del
XM_011518343.1:c.-233del XP_011516645.1:n.-233del
XM_011518344.1:c.-233del XP_011516646.1:n.-233del
XR_930204.1:n.734+167del
XM_005251773.3:c.-233del XP_005251830.1:n.-233del
XM_005251776.3:c.-255del XP_005251833.1:n.-255del
XM_011518339.3:c.-233del XP_011516641.1:n.-233del
XM_011518341.3:c.-233del XP_011516643.1:n.-233del
XM_011518342.3:c.-296del XP_011516644.1:n.-296del
XM_011518344.2:c.-233del XP_011516646.1:n.-233del
XR_001746223.1:n.81del
XR_930204.2:n.115+167del
NM_005502.4:c.-233del MANE Select NP_005493.2:n.-233del