Canonical Allele Identifier: CA2631187536
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278191-ACT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278194_2278195del , CM000678.2:g.2278194_2278195del GRCh38
NC_000016.9:g.2328195_2328196del , CM000678.1:g.2328195_2328196del GRCh37
NC_000016.8:g.2268196_2268197del NCBI36
NG_011790.1:g.67554_67555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+95_4718+96del MANE Select ENSP00000301732.5:n.4718+95_4718+96del
ENST00000301732.9:c.4718+95_4718+96del ENSP00000301732.5:n.4718+95_4718+96del
ENST00000382381.7:c.4544+95_4544+96del ENSP00000371818.3:n.4544+95_4544+96del
NM_001089.2:c.4718+95_4718+96del NP_001080.2:n.4718+95_4718+96del
NM_001089.3:c.4718+95_4718+96del MANE Select NP_001080.2:n.4718+95_4718+96del
Search 100 bp 5'
Search 100 bp 3'