Canonical Allele Identifier: CA2744619098
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060641del , CM000663.2:g.94060641del GRCh38
NC_000001.10:g.94526197del , CM000663.1:g.94526197del GRCh37
NC_000001.9:g.94298785del NCBI36
NG_009073.1:g.65510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2057del MANE Select ENSP00000359245.3:p.Leu686Ter
ENST00000649773.1:c.2057del ENSP00000496882.1:p.Leu686Ter
ENST00000370225.3:c.2057del ENSP00000359245.3:p.Leu686Ter
ENST00000472033.1:n.177del
ENST00000536513.5:c.-65+2534del ENSP00000439707.2:n.-65+2534del
NM_000350.2:c.2057del NP_000341.2:p.Leu686Ter
NM_000350.3:c.2057del MANE Select NP_000341.2:p.Leu686Ter
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