Canonical Allele Identifier: CA2575882243
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278323dup , CM000678.2:g.2278323dup GRCh38
NC_000016.9:g.2328324dup , CM000678.1:g.2328324dup GRCh37
NC_000016.8:g.2268325dup NCBI36
NG_011790.1:g.67424dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4683dup MANE Select ENSP00000301732.5:p.Glu1562ArgfsTer17
ENST00000301732.9:c.4683dup ENSP00000301732.5:p.Glu1562ArgfsTer17
ENST00000382381.7:c.4509dup ENSP00000371818.3:p.Glu1504ArgfsTer17
ENST00000566200.1:n.1204dup
NM_001089.2:c.4683dup NP_001080.2:p.Glu1562ArgfsTer17
NM_001089.3:c.4683dup MANE Select NP_001080.2:p.Glu1562ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'