Canonical Allele Identifier: CA2744617516
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041523_94041524insCCAAACAC , CM000663.2:g.94041523_94041524insCCAAACAC GRCh38
NC_000001.10:g.94507079_94507080insCCAAACAC , CM000663.1:g.94507079_94507080insCCAAACAC GRCh37
NC_000001.9:g.94279667_94279668insCCAAACAC NCBI36
NG_009073.1:g.84626_84627insGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-122_3329-121insGTGTTTGG MANE Select ENSP00000359245.3:n.3329-122_3329-121insGTGTTTGG
ENST00000370225.3:c.3329-122_3329-121insGTGTTTGG ENSP00000359245.3:n.3329-122_3329-121insGTGTTTGG
ENST00000536513.5:c.-64-1435_-64-1434insGTGTTTGG ENSP00000439707.2:n.-64-1435_-64-1434insGTGTTTGG
NM_000350.2:c.3329-122_3329-121insGTGTTTGG NP_000341.2:n.3329-122_3329-121insGTGTTTGG
NM_000350.3:c.3329-122_3329-121insGTGTTTGG MANE Select NP_000341.2:n.3329-122_3329-121insGTGTTTGG
Search 100 bp 5'
Search 100 bp 3'