Canonical Allele Identifier: CA1181414541
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029446_94029447delinsTG , CM000663.2:g.94029446_94029447delinsTG GRCh38
NC_000001.10:g.94495002_94495003delinsTG , CM000663.1:g.94495002_94495003delinsTG GRCh37
NC_000001.9:g.94267590_94267591delinsTG NCBI36
NG_009073.1:g.96703_96704delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4537_4538delinsCA MANE Select ENSP00000359245.3:p.Gln1513=
ENST00000370225.3:c.4537_4538delinsCA ENSP00000359245.3:p.Gln1513=
ENST00000536513.5:c.913_914delinsCA ENSP00000439707.2:p.Gln305=
NM_000350.2:c.4537_4538delinsCA NP_000341.2:p.Gln1513=
NM_000350.3:c.4537_4538delinsCA MANE Select NP_000341.2:p.Gln1513=
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