Canonical Allele Identifier: CA2695221869
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277936_2277948del , CM000678.2:g.2277936_2277948del GRCh38
NC_000016.9:g.2327937_2327949del , CM000678.1:g.2327937_2327949del GRCh37
NC_000016.8:g.2267938_2267950del NCBI36
NG_011790.1:g.67803_67815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4844_4856del MANE Select ENSP00000301732.5:p.Val1615GlyfsTer15
ENST00000301732.9:c.4844_4856del ENSP00000301732.5:p.Val1615GlyfsTer15
ENST00000382381.7:c.4670_4682del ENSP00000371818.3:p.Val1557GlyfsTer15
NM_001089.2:c.4844_4856del NP_001080.2:p.Val1615GlyfsTer15
NM_001089.3:c.4844_4856del MANE Select NP_001080.2:p.Val1615GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'