Canonical Allele Identifier: CA2744617861
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043565_94043566del , CM000663.2:g.94043565_94043566del GRCh38
NC_000001.10:g.94509121_94509122del , CM000663.1:g.94509121_94509122del GRCh37
NC_000001.9:g.94281709_94281710del NCBI36
NG_009073.1:g.82584_82585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-91_3051-90del MANE Select ENSP00000359245.3:n.3051-91_3051-90del
ENST00000370225.3:c.3051-91_3051-90del ENSP00000359245.3:n.3051-91_3051-90del
ENST00000536513.5:c.-64-3477_-64-3476del ENSP00000439707.2:n.-64-3477_-64-3476del
NM_000350.2:c.3051-91_3051-90del NP_000341.2:n.3051-91_3051-90del
NM_000350.3:c.3051-91_3051-90del MANE Select NP_000341.2:n.3051-91_3051-90del
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