Canonical Allele Identifier: CA2586966974
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111570delinsTTC , CM000663.2:g.94111570delinsTTC GRCh38
NC_000001.10:g.94577126delinsTTC , CM000663.1:g.94577126delinsTTC GRCh37
NC_000001.9:g.94349714delinsTTC NCBI36
NG_009073.1:g.14580delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.170delinsGAA MANE Select ENSP00000359245.3:p.Pro57ArgfsTer22
ENST00000649773.1:c.170delinsGAA ENSP00000496882.1:p.Pro57ArgfsTer22
ENST00000370225.3:c.170delinsGAA ENSP00000359245.3:p.Pro57ArgfsTer22
NM_000350.2:c.170delinsGAA NP_000341.2:p.Pro57ArgfsTer22
NM_000350.3:c.170delinsGAA MANE Select NP_000341.2:p.Pro57ArgfsTer22
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