Canonical Allele Identifier: CA2573508285
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051672dup , CM000663.2:g.94051672dup GRCh38
NC_000001.10:g.94517228dup , CM000663.1:g.94517228dup GRCh37
NC_000001.9:g.94289816dup NCBI36
NG_009073.1:g.74478dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2614dup MANE Select ENSP00000359245.3:p.Tyr872LeufsTer13
ENST00000649773.1:c.2392dup ENSP00000496882.1:p.Tyr798LeufsTer13
ENST00000370225.3:c.2614dup ENSP00000359245.3:p.Tyr872LeufsTer13
ENST00000536513.5:c.-65+11502dup ENSP00000439707.2:n.-65+11502dup
NM_000350.2:c.2614dup NP_000341.2:p.Tyr872LeufsTer13
NM_000350.3:c.2614dup MANE Select NP_000341.2:p.Tyr872LeufsTer13