Canonical Allele Identifier: CA1869965104
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1826494199

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928084_104928088dup , CM000671.2:g.104928084_104928088dup GRCh38
NC_000009.11:g.107690365_107690369dup , CM000671.1:g.107690365_107690369dup GRCh37
NC_000009.10:g.106730186_106730190dup NCBI36
NG_007981.1:g.5068_5072dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.-246_-242dup MANE Select ENSP00000363868.3:n.-246_-242dup
ENST00000678995.1:c.-246_-242dup ENSP00000504612.1:n.-246_-242dup
ENST00000374733.1:c.-268_-264dup ENSP00000363865.1:n.-268_-264dup
ENST00000374736.7:c.-246_-242dup ENSP00000363868.3:n.-246_-242dup
ENST00000423487.6:c.-246_-242dup ENSP00000416623.2:n.-246_-242dup
NM_005502.3:c.-246_-242dup NP_005493.2:n.-246_-242dup
XM_005251773.1:c.-246_-242dup XP_005251830.1:n.-246_-242dup
XM_005251776.1:c.-268_-264dup XP_005251833.1:n.-268_-264dup
XM_011518339.1:c.-246_-242dup XP_011516641.1:n.-246_-242dup
XM_011518341.1:c.-246_-242dup XP_011516643.1:n.-246_-242dup
XM_011518342.1:c.-309_-305dup XP_011516644.1:n.-309_-305dup
XM_011518343.1:c.-246_-242dup XP_011516645.1:n.-246_-242dup
XM_011518344.1:c.-246_-242dup XP_011516646.1:n.-246_-242dup
XR_930204.1:n.734+174_734+178dup
XM_005251773.3:c.-246_-242dup XP_005251830.1:n.-246_-242dup
XM_005251776.3:c.-268_-264dup XP_005251833.1:n.-268_-264dup
XM_011518339.3:c.-246_-242dup XP_011516641.1:n.-246_-242dup
XM_011518341.3:c.-246_-242dup XP_011516643.1:n.-246_-242dup
XM_011518342.3:c.-309_-305dup XP_011516644.1:n.-309_-305dup
XM_011518344.2:c.-246_-242dup XP_011516646.1:n.-246_-242dup
XR_001746223.1:n.68_72dup
XR_930204.2:n.115+174_115+178dup
NM_005502.4:c.-246_-242dup MANE Select NP_005493.2:n.-246_-242dup