Canonical Allele Identifier: CA2202169413
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326397_2326399delinsCAG , CM000678.2:g.2326397_2326399delinsCAG GRCh38
NC_000016.9:g.2376398_2376400delinsCAG , CM000678.1:g.2376398_2376400delinsCAG GRCh37
NC_000016.8:g.2316399_2316401delinsCAG NCBI36
NG_011790.1:g.19348_19350delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+14_54+16delinsCTG MANE Select ENSP00000301732.5:n.54+14_54+16delinsCTG
ENST00000301732.9:c.54+14_54+16delinsCTG ENSP00000301732.5:n.54+14_54+16delinsCTG
ENST00000382381.7:c.54+14_54+16delinsCTG ENSP00000371818.3:n.54+14_54+16delinsCTG
ENST00000563623.5:n.617+14_617+16delinsCTG
ENST00000567910.1:c.54+14_54+16delinsCTG ENSP00000454397.1:n.54+14_54+16delinsCTG
NM_001089.2:c.54+14_54+16delinsCTG NP_001080.2:n.54+14_54+16delinsCTG
NM_001089.3:c.54+14_54+16delinsCTG MANE Select NP_001080.2:n.54+14_54+16delinsCTG
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