Canonical Allele Identifier: CA2744619168
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060870del , CM000663.2:g.94060870del GRCh38
NC_000001.10:g.94526426del , CM000663.1:g.94526426del GRCh37
NC_000001.9:g.94299014del NCBI36
NG_009073.1:g.65281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-110del MANE Select ENSP00000359245.3:n.1938-110del
ENST00000649773.1:c.1938-110del ENSP00000496882.1:n.1938-110del
ENST00000370225.3:c.1938-110del ENSP00000359245.3:n.1938-110del
ENST00000472033.1:n.58-110del
ENST00000536513.5:c.-65+2305del ENSP00000439707.2:n.-65+2305del
NM_000350.2:c.1938-110del NP_000341.2:n.1938-110del
NM_000350.3:c.1938-110del MANE Select NP_000341.2:n.1938-110del
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