Canonical Allele Identifier: CA645372243
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997920_94002690delinsCTAGGGAGGTGCACA , CM000663.2:g.93997920_94002690delinsCTAGGGAGGTGCACA GRCh38
NC_000001.10:g.94463476_94468246delinsCTAGGGAGGTGCACA , CM000663.1:g.94463476_94468246delinsCTAGGGAGGTGCACA GRCh37
NC_000001.9:g.94236064_94240834delinsCTAGGGAGGTGCACA NCBI36
NG_009073.1:g.123460_128230delinsTGTGCACCTCCCTAG

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6148-698_6670delinsTGTGCACCTCCCTAG
ENST00000370225.3:c.6148-698_6670delinsTGTGCACCTCCCTAG
ENST00000536513.5:c.2524-698_3046delinsTGTGCACCTCCCTAG
NM_000350.2:c.6148-698_6670delinsTGTGCACCTCCCTAG
NM_000350.3:c.6148-698_6670delinsTGTGCACCTCCCTAG