Canonical Allele Identifier: CA645372175
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056791_94056802del , CM000663.2:g.94056791_94056802del GRCh38
NC_000001.10:g.94522347_94522358del , CM000663.1:g.94522347_94522358del GRCh37
NC_000001.9:g.94294935_94294946del NCBI36
NG_009073.1:g.69350_69361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2183_2194del MANE Select ENSP00000359245.3:p.Ser728_Phe731del
ENST00000649773.1:c.2161-1485_2161-1474del ENSP00000496882.1:n.2161-1485_2161-1474del
ENST00000370225.3:c.2183_2194del ENSP00000359245.3:p.Ser728_Phe731del
ENST00000536513.5:c.-65+6374_-65+6385del ENSP00000439707.2:n.-65+6374_-65+6385del
NM_000350.2:c.2183_2194del NP_000341.2:p.Ser728_Phe731del
NM_000350.3:c.2183_2194del MANE Select NP_000341.2:p.Ser728_Phe731del
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