Canonical Allele Identifier: CA2631188670
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2289374-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289375del , CM000678.2:g.2289375del GRCh38
NC_000016.9:g.2339376del , CM000678.1:g.2339376del GRCh37
NC_000016.8:g.2279377del NCBI36
NG_011790.1:g.56372del

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+59del MANE Select ENSP00000301732.5:n.2700+59del
ENST00000301732.9:c.2700+59del ENSP00000301732.5:n.2700+59del
ENST00000382381.7:c.2526+59del ENSP00000371818.3:n.2526+59del
ENST00000563623.5:n.3322del
NM_001089.2:c.2700+59del NP_001080.2:n.2700+59del
NM_001089.3:c.2700+59del MANE Select NP_001080.2:n.2700+59del
Search 100 bp 5'
Search 100 bp 3'