Canonical Allele Identifier: CA2202165483
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315420_2315421delinsAC , CM000678.2:g.2315420_2315421delinsAC GRCh38
NC_000016.9:g.2365421_2365422delinsAC , CM000678.1:g.2365421_2365422delinsAC GRCh37
NC_000016.8:g.2305422_2305423delinsAC NCBI36
NG_011790.1:g.30326_30327delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1862_1111+1863delinsGT MANE Select ENSP00000301732.5:n.1111+1862_1111+1863delinsGT
ENST00000301732.9:c.1111+1862_1111+1863delinsGT ENSP00000301732.5:n.1111+1862_1111+1863delinsGT
ENST00000382381.7:c.1111+1862_1111+1863delinsGT ENSP00000371818.3:n.1111+1862_1111+1863delinsGT
ENST00000563623.5:n.1674+1862_1674+1863delinsGT
NM_001089.2:c.1111+1862_1111+1863delinsGT NP_001080.2:n.1111+1862_1111+1863delinsGT
NM_001089.3:c.1111+1862_1111+1863delinsGT MANE Select NP_001080.2:n.1111+1862_1111+1863delinsGT
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