Canonical Allele Identifier: CA2631187572
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278244-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278247del , CM000678.2:g.2278247del GRCh38
NC_000016.9:g.2328248del , CM000678.1:g.2328248del GRCh37
NC_000016.8:g.2268249del NCBI36
NG_011790.1:g.67502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+43del MANE Select ENSP00000301732.5:n.4718+43del
ENST00000301732.9:c.4718+43del ENSP00000301732.5:n.4718+43del
ENST00000382381.7:c.4544+43del ENSP00000371818.3:n.4544+43del
NM_001089.2:c.4718+43del NP_001080.2:n.4718+43del
NM_001089.3:c.4718+43del MANE Select NP_001080.2:n.4718+43del
Search 100 bp 5'
Search 100 bp 3'