Canonical Allele Identifier: CA1181395196
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997976_93997984delinsATGTTGTAG , CM000663.2:g.93997976_93997984delinsATGTTGTAG GRCh38
NC_000001.10:g.94463532_94463540delinsATGTTGTAG , CM000663.1:g.94463532_94463540delinsATGTTGTAG GRCh37
NC_000001.9:g.94236120_94236128delinsATGTTGTAG NCBI36
NG_009073.1:g.128166_128174delinsCTACAACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6606_6614delinsCTACAACAT MANE Select ENSP00000359245.3:p.His2202=
ENST00000370225.3:c.6606_6614delinsCTACAACAT ENSP00000359245.3:p.His2202=
ENST00000536513.5:c.2982_2990delinsCTACAACAT ENSP00000439707.2:p.His994=
NM_000350.2:c.6606_6614delinsCTACAACAT NP_000341.2:p.His2202=
NM_000350.3:c.6606_6614delinsCTACAACAT MANE Select NP_000341.2:p.His2202=
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