Canonical Allele Identifier: CA645519095
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM143666
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043361_94043362delinsTT , CM000663.2:g.94043361_94043362delinsTT GRCh38
NC_000001.10:g.94508917_94508918delinsTT , CM000663.1:g.94508917_94508918delinsTT GRCh37
NC_000001.9:g.94281505_94281506delinsTT NCBI36
NG_009073.1:g.82788_82789delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3164_3165delinsAA MANE Select ENSP00000359245.3:p.Arg1055Gln
ENST00000370225.3:c.3164_3165delinsAA ENSP00000359245.3:p.Arg1055Gln
ENST00000536513.5:c.-64-3273_-64-3272delinsAA ENSP00000439707.2:n.-64-3273_-64-3272delinsAA
NM_000350.2:c.3164_3165delinsAA NP_000341.2:p.Arg1055Gln
NM_000350.3:c.3164_3165delinsAA MANE Select NP_000341.2:p.Arg1055Gln
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