Canonical Allele Identifier: CA1145278979
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007593C= , CM000663.2:g.94007593C= GRCh38
NC_000001.10:g.94473149C= , CM000663.1:g.94473149C= GRCh37
NC_000001.9:g.94245737C= NCBI36
NG_009073.1:g.118557G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+41G= MANE Select ENSP00000359245.3:n.6005+41G=
ENST00000370225.3:c.6005+41G= ENSP00000359245.3:n.6005+41G=
ENST00000465352.1:n.421+41G=
ENST00000484388.1:n.119+41G=
ENST00000536513.5:c.2381+41G= ENSP00000439707.2:n.2381+41G=
NM_000350.2:c.6005+41G= NP_000341.2:n.6005+41G=
NM_000350.3:c.6005+41G= MANE Select NP_000341.2:n.6005+41G=
Search 100 bp 5'
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