Canonical Allele Identifier: CA2744617437
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041495_94041505del , CM000663.2:g.94041495_94041505del GRCh38
NC_000001.10:g.94507051_94507061del , CM000663.1:g.94507051_94507061del GRCh37
NC_000001.9:g.94279639_94279649del NCBI36
NG_009073.1:g.84646_84656del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-102_3329-92del MANE Select ENSP00000359245.3:n.3329-102_3329-92del
ENST00000370225.3:c.3329-102_3329-92del ENSP00000359245.3:n.3329-102_3329-92del
ENST00000536513.5:c.-64-1415_-64-1405del ENSP00000439707.2:n.-64-1415_-64-1405del
NM_000350.2:c.3329-102_3329-92del NP_000341.2:n.3329-102_3329-92del
NM_000350.3:c.3329-102_3329-92del MANE Select NP_000341.2:n.3329-102_3329-92del
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