Canonical Allele Identifier: CA2202146427
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278655_2278656delinsAG , CM000678.2:g.2278655_2278656delinsAG GRCh38
NC_000016.9:g.2328656_2328657delinsAG , CM000678.1:g.2328656_2328657delinsAG GRCh37
NC_000016.8:g.2268657_2268658delinsAG NCBI36
NG_011790.1:g.67091_67092delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-198_4548-197delinsCT MANE Select ENSP00000301732.5:n.4548-198_4548-197delinsCT
ENST00000301732.9:c.4548-198_4548-197delinsCT ENSP00000301732.5:n.4548-198_4548-197delinsCT
ENST00000382381.7:c.4374-198_4374-197delinsCT ENSP00000371818.3:n.4374-198_4374-197delinsCT
ENST00000566200.1:n.1069-198_1069-197delinsCT
NM_001089.2:c.4548-198_4548-197delinsCT NP_001080.2:n.4548-198_4548-197delinsCT
NM_001089.3:c.4548-198_4548-197delinsCT MANE Select NP_001080.2:n.4548-198_4548-197delinsCT