Canonical Allele Identifier: CA2744617532
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041532_94041537del , CM000663.2:g.94041532_94041537del GRCh38
NC_000001.10:g.94507088_94507093del , CM000663.1:g.94507088_94507093del GRCh37
NC_000001.9:g.94279676_94279681del NCBI36
NG_009073.1:g.84613_84618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-135_3329-130del MANE Select ENSP00000359245.3:n.3329-135_3329-130del
ENST00000370225.3:c.3329-135_3329-130del ENSP00000359245.3:n.3329-135_3329-130del
ENST00000536513.5:c.-64-1448_-64-1443del ENSP00000439707.2:n.-64-1448_-64-1443del
NM_000350.2:c.3329-135_3329-130del NP_000341.2:n.3329-135_3329-130del
NM_000350.3:c.3329-135_3329-130del MANE Select NP_000341.2:n.3329-135_3329-130del