Canonical Allele Identifier: CA620390117
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093713347
gnomAD v2: 16-2365245-AG-A
gnomAD v3: 16-2315244-AG-A
gnomAD v4: 16-2315244-AG-A
MyVariant Identifiers: chr16:g.2365246del (hg19) chr16:g.2315245del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315245del , CM000678.2:g.2315245del GRCh38
NC_000016.9:g.2365246del , CM000678.1:g.2365246del GRCh37
NC_000016.8:g.2305247del NCBI36
NG_011790.1:g.30502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+2038del MANE Select ENSP00000301732.5:n.1111+2038del
ENST00000301732.9:c.1111+2038del ENSP00000301732.5:n.1111+2038del
ENST00000382381.7:c.1111+2038del ENSP00000371818.3:n.1111+2038del
ENST00000563623.5:n.1674+2038del
NM_001089.2:c.1111+2038del NP_001080.2:n.1111+2038del
NM_001089.3:c.1111+2038del MANE Select NP_001080.2:n.1111+2038del
Search 100 bp 5'
Search 100 bp 3'