Canonical Allele Identifier: CA1181422733
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047271A= , CM000663.2:g.94047271A= GRCh38
NC_000001.10:g.94512827A= , CM000663.1:g.94512827A= GRCh37
NC_000001.9:g.94285415A= NCBI36
NG_009073.1:g.78879T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-178T= MANE Select ENSP00000359245.3:n.2744-178T=
ENST00000649773.1:c.2522-178T= ENSP00000496882.1:n.2522-178T=
ENST00000370225.3:c.2744-178T= ENSP00000359245.3:n.2744-178T=
ENST00000536513.5:c.-64-7182T= ENSP00000439707.2:n.-64-7182T=
NM_000350.2:c.2744-178T= NP_000341.2:n.2744-178T=
NM_000350.3:c.2744-178T= MANE Select NP_000341.2:n.2744-178T=
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