Canonical Allele Identifier: CA1869926633
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104832191_104832192delinsTA , CM000671.2:g.104832191_104832192delinsTA GRCh38
NC_000009.11:g.107594472_107594473delinsTA , CM000671.1:g.107594472_107594473delinsTA GRCh37
NC_000009.10:g.106634293_106634294delinsTA NCBI36
NG_007981.1:g.100964_100965delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.1510-365_1510-364delinsTA MANE Select ENSP00000363868.3:n.1510-365_1510-364delinsTA
ENST00000678995.1:c.1510-365_1510-364delinsTA ENSP00000504612.1:n.1510-365_1510-364delinsTA
ENST00000374736.7:c.1510-365_1510-364delinsTA ENSP00000363868.3:n.1510-365_1510-364delinsTA
NM_005502.3:c.1510-365_1510-364delinsTA NP_005493.2:n.1510-365_1510-364delinsTA
XM_005251773.1:c.1510-365_1510-364delinsTA XP_005251830.1:n.1510-365_1510-364delinsTA
XM_005251776.1:c.1330-365_1330-364delinsTA XP_005251833.1:n.1330-365_1330-364delinsTA
XM_011518339.1:c.1585-365_1585-364delinsTA XP_011516641.1:n.1585-365_1585-364delinsTA
XM_011518340.1:c.1585-365_1585-364delinsTA XP_011516642.1:n.1585-365_1585-364delinsTA
XM_011518341.1:c.1585-365_1585-364delinsTA XP_011516643.1:n.1585-365_1585-364delinsTA
XM_011518342.1:c.1147-365_1147-364delinsTA XP_011516644.1:n.1147-365_1147-364delinsTA
XM_011518343.1:c.1585-365_1585-364delinsTA XP_011516645.1:n.1585-365_1585-364delinsTA
XM_011518344.1:c.1585-365_1585-364delinsTA XP_011516646.1:n.1585-365_1585-364delinsTA
XM_005251773.3:c.1510-365_1510-364delinsTA XP_005251830.1:n.1510-365_1510-364delinsTA
XM_005251776.3:c.1330-365_1330-364delinsTA XP_005251833.1:n.1330-365_1330-364delinsTA
XM_011518339.3:c.1585-365_1585-364delinsTA XP_011516641.1:n.1585-365_1585-364delinsTA
XM_011518340.3:c.1585-365_1585-364delinsTA XP_011516642.1:n.1585-365_1585-364delinsTA
XM_011518341.3:c.1585-365_1585-364delinsTA XP_011516643.1:n.1585-365_1585-364delinsTA
XM_011518342.3:c.1147-365_1147-364delinsTA XP_011516644.1:n.1147-365_1147-364delinsTA
XM_011518344.2:c.1585-365_1585-364delinsTA XP_011516646.1:n.1585-365_1585-364delinsTA
XM_017014378.2:c.1585-365_1585-364delinsTA XP_016869867.1:n.1585-365_1585-364delinsTA
XM_017014379.2:c.1585-365_1585-364delinsTA XP_016869868.1:n.1585-365_1585-364delinsTA
XM_017014380.2:c.1585-365_1585-364delinsTA XP_016869869.1:n.1585-365_1585-364delinsTA
XM_017014381.2:c.1585-365_1585-364delinsTA XP_016869870.1:n.1585-365_1585-364delinsTA
XM_017014382.2:c.1447-365_1447-364delinsTA XP_016869871.1:n.1447-365_1447-364delinsTA
XR_001746223.1:n.1898-365_1898-364delinsTA
NM_005502.4:c.1510-365_1510-364delinsTA MANE Select NP_005493.2:n.1510-365_1510-364delinsTA