Canonical Allele Identifier: CA2586967021
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997902del , CM000663.2:g.93997902del GRCh38
NC_000001.10:g.94463458del , CM000663.1:g.94463458del GRCh37
NC_000001.9:g.94236046del NCBI36
NG_009073.1:g.128248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6688del MANE Select ENSP00000359245.3:p.Leu2230SerfsTer17
ENST00000370225.3:c.6688del ENSP00000359245.3:p.Leu2230SerfsTer17
ENST00000536513.5:c.3064del ENSP00000439707.2:p.Leu1022SerfsTer17
NM_000350.2:c.6688del NP_000341.2:p.Leu2230SerfsTer17
NM_000350.3:c.6688del MANE Select NP_000341.2:p.Leu2230SerfsTer17
Search 100 bp 5'
Search 100 bp 3'