Canonical Allele Identifier: CA2202165457
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315346_2315347delinsCT , CM000678.2:g.2315346_2315347delinsCT GRCh38
NC_000016.9:g.2365347_2365348delinsCT , CM000678.1:g.2365347_2365348delinsCT GRCh37
NC_000016.8:g.2305348_2305349delinsCT NCBI36
NG_011790.1:g.30400_30401delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1936_1111+1937delinsAG MANE Select ENSP00000301732.5:n.1111+1936_1111+1937delinsAG
ENST00000301732.9:c.1111+1936_1111+1937delinsAG ENSP00000301732.5:n.1111+1936_1111+1937delinsAG
ENST00000382381.7:c.1111+1936_1111+1937delinsAG ENSP00000371818.3:n.1111+1936_1111+1937delinsAG
ENST00000563623.5:n.1674+1936_1674+1937delinsAG
NM_001089.2:c.1111+1936_1111+1937delinsAG NP_001080.2:n.1111+1936_1111+1937delinsAG
NM_001089.3:c.1111+1936_1111+1937delinsAG MANE Select NP_001080.2:n.1111+1936_1111+1937delinsAG
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