Canonical Allele Identifier: CA2631185700
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2276643-CCCTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276648_2276651del , CM000678.2:g.2276648_2276651del GRCh38
NC_000016.9:g.2326649_2326652del , CM000678.1:g.2326649_2326652del GRCh37
NC_000016.8:g.2266650_2266653del NCBI36
NG_011790.1:g.69100_69103del

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*27_*30del MANE Select ENSP00000301732.5:n.*27_*30del
ENST00000301732.9:c.*27_*30del ENSP00000301732.5:n.*27_*30del
ENST00000382381.7:c.*27_*30del ENSP00000371818.3:n.*27_*30del
NM_001089.2:c.*27_*30del NP_001080.2:n.*27_*30del
NM_001089.3:c.*27_*30del MANE Select NP_001080.2:n.*27_*30del
Search 100 bp 5'
Search 100 bp 3'