Canonical Allele Identifier: CA2575882913
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2317586-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317589del , CM000678.2:g.2317589del GRCh38
NC_000016.9:g.2367590del , CM000678.1:g.2367590del GRCh37
NC_000016.8:g.2307591del NCBI36
NG_011790.1:g.28160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.990+61del MANE Select ENSP00000301732.5:n.990+61del
ENST00000301732.9:c.990+61del ENSP00000301732.5:n.990+61del
ENST00000382381.7:c.990+61del ENSP00000371818.3:n.990+61del
ENST00000563623.5:n.1553+61del
NM_001089.2:c.990+61del NP_001080.2:n.990+61del
NM_001089.3:c.990+61del MANE Select NP_001080.2:n.990+61del
Search 100 bp 5'
Search 100 bp 3'