Canonical Allele Identifier: CA2695202076
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278453_2278454insA , CM000678.2:g.2278453_2278454insA GRCh38
NC_000016.9:g.2328454_2328455insA , CM000678.1:g.2328454_2328455insA GRCh37
NC_000016.8:g.2268455_2268456insA NCBI36
NG_011790.1:g.67293_67294insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4552_4553insT MANE Select ENSP00000301732.5:p.Gly1518ValfsTer2
ENST00000301732.9:c.4552_4553insT ENSP00000301732.5:p.Gly1518ValfsTer2
ENST00000382381.7:c.4378_4379insT ENSP00000371818.3:p.Gly1460ValfsTer2
ENST00000566200.1:n.1073_1074insT
NM_001089.2:c.4552_4553insT NP_001080.2:p.Gly1518ValfsTer2
NM_001089.3:c.4552_4553insT MANE Select NP_001080.2:p.Gly1518ValfsTer2
Search 100 bp 5'
Search 100 bp 3'