Canonical Allele Identifier: CA1181430010
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067413T= , CM000663.2:g.94067413T= GRCh38
NC_000001.10:g.94532969T= , CM000663.1:g.94532969T= GRCh37
NC_000001.9:g.94305557T= NCBI36
NG_009073.1:g.58737A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4096A= MANE Select ENSP00000359245.3:n.1555-4096A=
ENST00000649773.1:c.1555-4096A= ENSP00000496882.1:n.1555-4096A=
ENST00000370225.3:c.1555-4096A= ENSP00000359245.3:n.1555-4096A=
NM_000350.2:c.1555-4096A= NP_000341.2:n.1555-4096A=
NM_000350.3:c.1555-4096A= MANE Select NP_000341.2:n.1555-4096A=
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