Canonical Allele Identifier: CA2646651376
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94060885-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060889del , CM000663.2:g.94060889del GRCh38
NC_000001.10:g.94526445del , CM000663.1:g.94526445del GRCh37
NC_000001.9:g.94299033del NCBI36
NG_009073.1:g.65264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-127del MANE Select ENSP00000359245.3:n.1938-127del
ENST00000649773.1:c.1938-127del ENSP00000496882.1:n.1938-127del
ENST00000370225.3:c.1938-127del ENSP00000359245.3:n.1938-127del
ENST00000472033.1:n.58-127del
ENST00000536513.5:c.-65+2288del ENSP00000439707.2:n.-65+2288del
NM_000350.2:c.1938-127del NP_000341.2:n.1938-127del
NM_000350.3:c.1938-127del MANE Select NP_000341.2:n.1938-127del
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