Canonical Allele Identifier: CA7840751
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794552
ClinVar RCV Id: RCV002437288
dbSNP Id: rs748868457
ExAC: 16:2339461 GCTC / G
gnomAD v2: 16-2339461-GCTC-G
gnomAD v3: 16-2289460-GCTC-G
gnomAD v4: 16-2289460-GCTC-G
MyVariant Identifiers: chr16:g.2339462_2339464del (hg19) chr16:g.2289461_2289463del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289467_2289469del , CM000678.2:g.2289467_2289469del GRCh38
NC_000016.9:g.2339468_2339470del , CM000678.1:g.2339468_2339470del GRCh37
NC_000016.8:g.2279469_2279471del NCBI36
NG_011790.1:g.56284_56286del

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2671_2673del MANE Select ENSP00000301732.5:p.Glu891del
ENST00000301732.9:c.2671_2673del ENSP00000301732.5:p.Glu891del
ENST00000382381.7:c.2497_2499del ENSP00000371818.3:p.Glu833del
ENST00000563623.5:n.3234_3236del
NM_001089.2:c.2671_2673del NP_001080.2:p.Glu891del
NM_001089.3:c.2671_2673del MANE Select NP_001080.2:p.Glu891del
Search 100 bp 5'
Search 100 bp 3'