Canonical Allele Identifier: CA2631187511
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278158-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278159dup , CM000678.2:g.2278159dup GRCh38
NC_000016.9:g.2328160dup , CM000678.1:g.2328160dup GRCh37
NC_000016.8:g.2268161dup NCBI36
NG_011790.1:g.67588dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4719-90dup MANE Select ENSP00000301732.5:n.4719-90dup
ENST00000301732.9:c.4719-90dup ENSP00000301732.5:n.4719-90dup
ENST00000382381.7:c.4545-90dup ENSP00000371818.3:n.4545-90dup
NM_001089.2:c.4719-90dup NP_001080.2:n.4719-90dup
NM_001089.3:c.4719-90dup MANE Select NP_001080.2:n.4719-90dup
Search 100 bp 5'
Search 100 bp 3'