Canonical Allele Identifier: CA973796579
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v3: 16-2315244-A-ACAC
gnomAD v4: 16-2315244-A-ACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315244_2315245insCAC , CM000678.2:g.2315244_2315245insCAC GRCh38
NC_000016.9:g.2365245_2365246insCAC , CM000678.1:g.2365245_2365246insCAC GRCh37
NC_000016.8:g.2305246_2305247insCAC NCBI36
NG_011790.1:g.30502_30503insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+2038_1111+2039insGTG MANE Select ENSP00000301732.5:n.1111+2038_1111+2039insGTG
ENST00000301732.9:c.1111+2038_1111+2039insGTG ENSP00000301732.5:n.1111+2038_1111+2039insGTG
ENST00000382381.7:c.1111+2038_1111+2039insGTG ENSP00000371818.3:n.1111+2038_1111+2039insGTG
ENST00000563623.5:n.1674+2038_1674+2039insGTG
NM_001089.2:c.1111+2038_1111+2039insGTG NP_001080.2:n.1111+2038_1111+2039insGTG
NM_001089.3:c.1111+2038_1111+2039insGTG MANE Select NP_001080.2:n.1111+2038_1111+2039insGTG
Search 100 bp 5'
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