Canonical Allele Identifier: CA276820676
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs896233075
gnomAD v3: 16-2278655-AG-A
gnomAD v4: 16-2278655-AG-A
MyVariant Identifiers: chr16:g.2328657del (hg19) chr16:g.2278656del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278659del , CM000678.2:g.2278659del GRCh38
NC_000016.9:g.2328660del , CM000678.1:g.2328660del GRCh37
NC_000016.8:g.2268661del NCBI36
NG_011790.1:g.67091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-198del MANE Select ENSP00000301732.5:n.4548-198del
ENST00000301732.9:c.4548-198del ENSP00000301732.5:n.4548-198del
ENST00000382381.7:c.4374-198del ENSP00000371818.3:n.4374-198del
ENST00000566200.1:n.1069-198del
NM_001089.2:c.4548-198del NP_001080.2:n.4548-198del
NM_001089.3:c.4548-198del MANE Select NP_001080.2:n.4548-198del
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