Canonical Allele Identifier: CA1869937272
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104877181_104877184delinsGTCA , CM000671.2:g.104877181_104877184delinsGTCA GRCh38
NC_000009.11:g.107639462_107639465delinsGTCA , CM000671.1:g.107639462_107639465delinsGTCA GRCh37
NC_000009.10:g.106679283_106679286delinsGTCA NCBI36
NG_007981.1:g.55972_55975delinsTGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.421+5855_421+5858delinsTGAC MANE Select ENSP00000363868.3:n.421+5855_421+5858deli...
ENST00000678995.1:c.421+5855_421+5858delinsTGAC ENSP00000504612.1:n.421+5855_421+5858deli...
ENST00000374733.1:c.241+5855_241+5858delinsTGAC ENSP00000363865.1:n.241+5855_241+5858deli...
ENST00000374736.7:c.421+5855_421+5858delinsTGAC ENSP00000363868.3:n.421+5855_421+5858deli...
ENST00000423487.6:c.421+5855_421+5858delinsTGAC ENSP00000416623.2:n.421+5855_421+5858deli...
NM_005502.3:c.421+5855_421+5858delinsTGAC NP_005493.2:n.421+5855_421+5858delinsTGAC...
XM_005251773.1:c.421+5855_421+5858delinsTGAC XP_005251830.1:n.421+5855_421+5858delinsT...
XM_005251776.1:c.241+5855_241+5858delinsTGAC XP_005251833.1:n.241+5855_241+5858delinsT...
XM_011518339.1:c.496+5855_496+5858delinsTGAC XP_011516641.1:n.496+5855_496+5858delinsT...
XM_011518340.1:c.496+5855_496+5858delinsTGAC XP_011516642.1:n.496+5855_496+5858delinsT...
XM_011518341.1:c.496+5855_496+5858delinsTGAC XP_011516643.1:n.496+5855_496+5858delinsT...
XM_011518342.1:c.58+5855_58+5858delinsTGAC XP_011516644.1:n.58+5855_58+5858delinsTGA...
XM_011518343.1:c.496+5855_496+5858delinsTGAC XP_011516645.1:n.496+5855_496+5858delinsT...
XM_011518344.1:c.496+5855_496+5858delinsTGAC XP_011516646.1:n.496+5855_496+5858delinsT...
XM_005251773.3:c.421+5855_421+5858delinsTGAC XP_005251830.1:n.421+5855_421+5858delinsT...
XM_005251776.3:c.241+5855_241+5858delinsTGAC XP_005251833.1:n.241+5855_241+5858delinsT...
XM_011518339.3:c.496+5855_496+5858delinsTGAC XP_011516641.1:n.496+5855_496+5858delinsT...
XM_011518340.3:c.496+5855_496+5858delinsTGAC XP_011516642.1:n.496+5855_496+5858delinsT...
XM_011518341.3:c.496+5855_496+5858delinsTGAC XP_011516643.1:n.496+5855_496+5858delinsT...
XM_011518342.3:c.58+5855_58+5858delinsTGAC XP_011516644.1:n.58+5855_58+5858delinsTGA...
XM_011518344.2:c.496+5855_496+5858delinsTGAC XP_011516646.1:n.496+5855_496+5858delinsT...
XM_017014378.2:c.496+5855_496+5858delinsTGAC XP_016869867.1:n.496+5855_496+5858delinsT...
XM_017014379.2:c.496+5855_496+5858delinsTGAC XP_016869868.1:n.496+5855_496+5858delinsT...
XM_017014380.2:c.496+5855_496+5858delinsTGAC XP_016869869.1:n.496+5855_496+5858delinsT...
XM_017014381.2:c.496+5855_496+5858delinsTGAC XP_016869870.1:n.496+5855_496+5858delinsT...
XM_017014382.2:c.358+5855_358+5858delinsTGAC XP_016869871.1:n.358+5855_358+5858delinsT...
XR_001746223.1:n.809+5855_809+5858delinsTGAC
NM_005502.4:c.421+5855_421+5858delinsTGAC MANE Select NP_005493.2:n.421+5855_421+5858delinsTGAC...