Canonical Allele Identifier: CA2837994672
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029447_94029449delinsTTT , CM000663.2:g.94029447_94029449delinsTTT GRCh38
NC_000001.10:g.94495003_94495005delinsTTT , CM000663.1:g.94495003_94495005delinsTTT GRCh37
NC_000001.9:g.94267591_94267593delinsTTT NCBI36
NG_009073.1:g.96701_96703delinsAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4535_4537delinsAAA MANE Select ENSP00000359245.3:p.Pro1512_Gln1513delinsGlnLys
ENST00000370225.3:c.4535_4537delinsAAA ENSP00000359245.3:p.Pro1512_Gln1513delinsGlnLys
ENST00000536513.5:c.911_913delinsAAA ENSP00000439707.2:p.Pro304_Gln305delinsGlnLys
NM_000350.2:c.4535_4537delinsAAA NP_000341.2:p.Pro1512_Gln1513delinsGlnLys
NM_000350.3:c.4535_4537delinsAAA MANE Select NP_000341.2:p.Pro1512_Gln1513delinsGlnLys
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