Canonical Allele Identifier: CA2631188551
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2289317-TGACTCTCCCGGACCCTGTTTGCGCCCTCGCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289326_2289356del , CM000678.2:g.2289326_2289356del GRCh38
NC_000016.9:g.2339327_2339357del , CM000678.1:g.2339327_2339357del GRCh37
NC_000016.8:g.2279328_2279358del NCBI36
NG_011790.1:g.56399_56429del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.2700+86_2700+116del MANE Select ENSP00000301732.5:n.2700+86_2700+116del
ENST00000301732.9:c.2700+86_2700+116del ENSP00000301732.5:n.2700+86_2700+116del
ENST00000382381.7:c.2526+86_2526+116del ENSP00000371818.3:n.2526+86_2526+116del
ENST00000563623.5:n.3349_3379del
NM_001089.2:c.2700+86_2700+116del NP_001080.2:n.2700+86_2700+116del
NM_001089.3:c.2700+86_2700+116del MANE Select NP_001080.2:n.2700+86_2700+116del
Search 100 bp 5'
Search 100 bp 3'