Canonical Allele Identifier: CA1869916230
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104826751_104826754delinsTGAG , CM000671.2:g.104826751_104826754delinsTGAG GRCh38
NC_000009.11:g.107589032_107589035delinsTGAG , CM000671.1:g.107589032_107589035delinsTGAG GRCh37
NC_000009.10:g.106628853_106628856delinsTGAG NCBI36
NG_007981.1:g.106402_106405delinsCTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.2337+194_2337+197delinsCTCA MANE Select ENSP00000363868.3:n.2337+194_2337+197deli...
ENST00000678995.1:c.2337+194_2337+197delinsCTCA ENSP00000504612.1:n.2337+194_2337+197deli...
ENST00000374736.7:c.2337+194_2337+197delinsCTCA ENSP00000363868.3:n.2337+194_2337+197deli...
ENST00000494467.1:n.510+194_510+197delinsCTCA
NM_005502.3:c.2337+194_2337+197delinsCTCA NP_005493.2:n.2337+194_2337+197delinsCTCA...
XM_005251773.1:c.2337+194_2337+197delinsCTCA XP_005251830.1:n.2337+194_2337+197delinsC...
XM_005251776.1:c.2157+194_2157+197delinsCTCA XP_005251833.1:n.2157+194_2157+197delinsC...
XM_011518339.1:c.2412+194_2412+197delinsCTCA XP_011516641.1:n.2412+194_2412+197delinsC...
XM_011518340.1:c.2412+194_2412+197delinsCTCA XP_011516642.1:n.2412+194_2412+197delinsC...
XM_011518341.1:c.2412+194_2412+197delinsCTCA XP_011516643.1:n.2412+194_2412+197delinsC...
XM_011518342.1:c.1974+194_1974+197delinsCTCA XP_011516644.1:n.1974+194_1974+197delinsC...
XM_011518343.1:c.2412+194_2412+197delinsCTCA XP_011516645.1:n.2412+194_2412+197delinsC...
XM_011518344.1:c.2412+194_2412+197delinsCTCA XP_011516646.1:n.2412+194_2412+197delinsC...
XM_005251773.3:c.2337+194_2337+197delinsCTCA XP_005251830.1:n.2337+194_2337+197delinsC...
XM_005251776.3:c.2157+194_2157+197delinsCTCA XP_005251833.1:n.2157+194_2157+197delinsC...
XM_011518339.3:c.2412+194_2412+197delinsCTCA XP_011516641.1:n.2412+194_2412+197delinsC...
XM_011518340.3:c.2412+194_2412+197delinsCTCA XP_011516642.1:n.2412+194_2412+197delinsC...
XM_011518341.3:c.2412+194_2412+197delinsCTCA XP_011516643.1:n.2412+194_2412+197delinsC...
XM_011518342.3:c.1974+194_1974+197delinsCTCA XP_011516644.1:n.1974+194_1974+197delinsC...
XM_011518344.2:c.2412+194_2412+197delinsCTCA XP_011516646.1:n.2412+194_2412+197delinsC...
XM_017014378.2:c.2412+194_2412+197delinsCTCA XP_016869867.1:n.2412+194_2412+197delinsC...
XM_017014379.2:c.2412+194_2412+197delinsCTCA XP_016869868.1:n.2412+194_2412+197delinsC...
XM_017014380.2:c.2412+194_2412+197delinsCTCA XP_016869869.1:n.2412+194_2412+197delinsC...
XM_017014381.2:c.2412+194_2412+197delinsCTCA XP_016869870.1:n.2412+194_2412+197delinsC...
XM_017014382.2:c.2274+194_2274+197delinsCTCA XP_016869871.1:n.2274+194_2274+197delinsC...
XR_001746223.1:n.2725+194_2725+197delinsCTCA
NM_005502.4:c.2337+194_2337+197delinsCTCA MANE Select NP_005493.2:n.2337+194_2337+197delinsCTCA...