Canonical Allele Identifier: CA2631187497
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278144-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278145del , CM000678.2:g.2278145del GRCh38
NC_000016.9:g.2328146del , CM000678.1:g.2328146del GRCh37
NC_000016.8:g.2268147del NCBI36
NG_011790.1:g.67602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4719-76del MANE Select ENSP00000301732.5:n.4719-76del
ENST00000301732.9:c.4719-76del ENSP00000301732.5:n.4719-76del
ENST00000382381.7:c.4545-76del ENSP00000371818.3:n.4545-76del
NM_001089.2:c.4719-76del NP_001080.2:n.4719-76del
NM_001089.3:c.4719-76del MANE Select NP_001080.2:n.4719-76del
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