Canonical Allele Identifier: CA2646651697
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062522-ACTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062524_94062526del , CM000663.2:g.94062524_94062526del GRCh38
NC_000001.10:g.94528080_94528082del , CM000663.1:g.94528080_94528082del GRCh37
NC_000001.9:g.94300668_94300670del NCBI36
NG_009073.1:g.63625_63627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+52_1937+54del MANE Select ENSP00000359245.3:n.1937+52_1937+54del
ENST00000649773.1:c.1937+52_1937+54del ENSP00000496882.1:n.1937+52_1937+54del
ENST00000370225.3:c.1937+52_1937+54del ENSP00000359245.3:n.1937+52_1937+54del
ENST00000536513.5:c.-65+649_-65+651del ENSP00000439707.2:n.-65+649_-65+651del
NM_000350.2:c.1937+52_1937+54del NP_000341.2:n.1937+52_1937+54del
NM_000350.3:c.1937+52_1937+54del MANE Select NP_000341.2:n.1937+52_1937+54del
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