Canonical Allele Identifier: CA2631191231
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2326333-GACAGCCCTTCCCTCAAGGGCATC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326334_2326356del , CM000678.2:g.2326334_2326356del GRCh38
NC_000016.9:g.2376335_2376357del , CM000678.1:g.2376335_2376357del GRCh37
NC_000016.8:g.2316336_2316358del NCBI36
NG_011790.1:g.19391_19413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+57_55-60del MANE Select ENSP00000301732.5:n.54+57_55-60del
ENST00000301732.9:c.54+57_55-60del ENSP00000301732.5:n.54+57_55-60del
ENST00000382381.7:c.54+57_55-60del ENSP00000371818.3:n.54+57_55-60del
ENST00000563623.5:n.617+57_618-60del
ENST00000567910.1:c.54+57_55-60del ENSP00000454397.1:n.54+57_55-60del
NM_001089.2:c.54+57_55-60del NP_001080.2:n.54+57_55-60del
NM_001089.3:c.54+57_55-60del MANE Select NP_001080.2:n.54+57_55-60del
Search 100 bp 5'
Search 100 bp 3'