Canonical Allele Identifier: CA1869923697
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104830897_104830898delinsTA , CM000671.2:g.104830897_104830898delinsTA GRCh38
NC_000009.11:g.107593178_107593179delinsTA , CM000671.1:g.107593178_107593179delinsTA GRCh37
NC_000009.10:g.106632999_106633000delinsTA NCBI36
NG_007981.1:g.102258_102259delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.1892+27_1892+28delinsTA MANE Select ENSP00000363868.3:n.1892+27_1892+28delinsTA
ENST00000678995.1:c.1892+27_1892+28delinsTA ENSP00000504612.1:n.1892+27_1892+28delinsTA
ENST00000374736.7:c.1892+27_1892+28delinsTA ENSP00000363868.3:n.1892+27_1892+28delinsTA
ENST00000494467.1:n.65+27_65+28delinsTA
NM_005502.3:c.1892+27_1892+28delinsTA NP_005493.2:n.1892+27_1892+28delinsTA
XM_005251773.1:c.1892+27_1892+28delinsTA XP_005251830.1:n.1892+27_1892+28delinsTA
XM_005251776.1:c.1712+27_1712+28delinsTA XP_005251833.1:n.1712+27_1712+28delinsTA
XM_011518339.1:c.1967+27_1967+28delinsTA XP_011516641.1:n.1967+27_1967+28delinsTA
XM_011518340.1:c.1967+27_1967+28delinsTA XP_011516642.1:n.1967+27_1967+28delinsTA
XM_011518341.1:c.1967+27_1967+28delinsTA XP_011516643.1:n.1967+27_1967+28delinsTA
XM_011518342.1:c.1529+27_1529+28delinsTA XP_011516644.1:n.1529+27_1529+28delinsTA
XM_011518343.1:c.1967+27_1967+28delinsTA XP_011516645.1:n.1967+27_1967+28delinsTA
XM_011518344.1:c.1967+27_1967+28delinsTA XP_011516646.1:n.1967+27_1967+28delinsTA
XM_005251773.3:c.1892+27_1892+28delinsTA XP_005251830.1:n.1892+27_1892+28delinsTA
XM_005251776.3:c.1712+27_1712+28delinsTA XP_005251833.1:n.1712+27_1712+28delinsTA
XM_011518339.3:c.1967+27_1967+28delinsTA XP_011516641.1:n.1967+27_1967+28delinsTA
XM_011518340.3:c.1967+27_1967+28delinsTA XP_011516642.1:n.1967+27_1967+28delinsTA
XM_011518341.3:c.1967+27_1967+28delinsTA XP_011516643.1:n.1967+27_1967+28delinsTA
XM_011518342.3:c.1529+27_1529+28delinsTA XP_011516644.1:n.1529+27_1529+28delinsTA
XM_011518344.2:c.1967+27_1967+28delinsTA XP_011516646.1:n.1967+27_1967+28delinsTA
XM_017014378.2:c.1967+27_1967+28delinsTA XP_016869867.1:n.1967+27_1967+28delinsTA
XM_017014379.2:c.1967+27_1967+28delinsTA XP_016869868.1:n.1967+27_1967+28delinsTA
XM_017014380.2:c.1967+27_1967+28delinsTA XP_016869869.1:n.1967+27_1967+28delinsTA
XM_017014381.2:c.1967+27_1967+28delinsTA XP_016869870.1:n.1967+27_1967+28delinsTA
XM_017014382.2:c.1829+27_1829+28delinsTA XP_016869871.1:n.1829+27_1829+28delinsTA
XR_001746223.1:n.2280+27_2280+28delinsTA
NM_005502.4:c.1892+27_1892+28delinsTA MANE Select NP_005493.2:n.1892+27_1892+28delinsTA