Canonical Allele Identifier: CA120479
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs387906412

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104828953_104828955del , CM000671.2:g.104828953_104828955del GRCh38
NC_000009.11:g.107591234_107591236del , CM000671.1:g.107591234_107591236del GRCh37
NC_000009.10:g.106631055_106631057del NCBI36
NG_007981.1:g.104205_104207del

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.2080_2082del MANE Select ENSP00000363868.3:p.Leu694del
ENST00000678995.1:c.2080_2082del ENSP00000504612.1:p.Leu694del
ENST00000374736.7:c.2080_2082del ENSP00000363868.3:p.Leu694del
ENST00000494467.1:n.253_255del
NM_005502.3:c.2080_2082del NP_005493.2:p.Leu694del
XM_005251773.1:c.2080_2082del XP_005251830.1:p.Leu694del
XM_005251776.1:c.1900_1902del XP_005251833.1:p.Leu634del
XM_011518339.1:c.2155_2157del XP_011516641.1:p.Leu719del
XM_011518340.1:c.2155_2157del XP_011516642.1:p.Leu719del
XM_011518341.1:c.2155_2157del XP_011516643.1:p.Leu719del
XM_011518342.1:c.1717_1719del XP_011516644.1:p.Leu573del
XM_011518343.1:c.2155_2157del XP_011516645.1:p.Leu719del
XM_011518344.1:c.2155_2157del XP_011516646.1:p.Leu719del
XM_005251773.3:c.2080_2082del XP_005251830.1:p.Leu694del
XM_005251776.3:c.1900_1902del XP_005251833.1:p.Leu634del
XM_011518339.3:c.2155_2157del XP_011516641.1:p.Leu719del
XM_011518340.3:c.2155_2157del XP_011516642.1:p.Leu719del
XM_011518341.3:c.2155_2157del XP_011516643.1:p.Leu719del
XM_011518342.3:c.1717_1719del XP_011516644.1:p.Leu573del
XM_011518344.2:c.2155_2157del XP_011516646.1:p.Leu719del
XM_017014378.2:c.2155_2157del XP_016869867.1:p.Leu719del
XM_017014379.2:c.2155_2157del XP_016869868.1:p.Leu719del
XM_017014380.2:c.2155_2157del XP_016869869.1:p.Leu719del
XM_017014381.2:c.2155_2157del XP_016869870.1:p.Leu719del
XM_017014382.2:c.2017_2019del XP_016869871.1:p.Leu673del
XR_001746223.1:n.2468_2470del
NM_005502.4:c.2080_2082del MANE Select NP_005493.2:p.Leu694del