Canonical Allele Identifier: CA7841817
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs777916143
ExAC: 16:2376398 CAG / C
gnomAD v2: 16-2376398-CAG-C
gnomAD v3: 16-2326397-CAG-C
gnomAD v4: 16-2326397-CAG-C
MyVariant Identifiers: chr16:g.2376399_2376400del (hg19) chr16:g.2326398_2326399del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326400_2326401del , CM000678.2:g.2326400_2326401del GRCh38
NC_000016.9:g.2376401_2376402del , CM000678.1:g.2376401_2376402del GRCh37
NC_000016.8:g.2316402_2316403del NCBI36
NG_011790.1:g.19348_19349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+14_54+15del MANE Select ENSP00000301732.5:n.54+14_54+15del
ENST00000301732.9:c.54+14_54+15del ENSP00000301732.5:n.54+14_54+15del
ENST00000382381.7:c.54+14_54+15del ENSP00000371818.3:n.54+14_54+15del
ENST00000563623.5:n.617+14_617+15del
ENST00000567910.1:c.54+14_54+15del ENSP00000454397.1:n.54+14_54+15del
NM_001089.2:c.54+14_54+15del NP_001080.2:n.54+14_54+15del
NM_001089.3:c.54+14_54+15del MANE Select NP_001080.2:n.54+14_54+15del
Search 100 bp 5'
Search 100 bp 3'