Canonical Allele Identifier: CA2202166857
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317790_2317791delinsTG , CM000678.2:g.2317790_2317791delinsTG GRCh38
NC_000016.9:g.2367791_2367792delinsTG , CM000678.1:g.2367791_2367792delinsTG GRCh37
NC_000016.8:g.2307792_2307793delinsTG NCBI36
NG_011790.1:g.27956_27957delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.874-27_874-26delinsCA MANE Select ENSP00000301732.5:n.874-27_874-26delinsCA
ENST00000301732.9:c.874-27_874-26delinsCA ENSP00000301732.5:n.874-27_874-26delinsCA
ENST00000382381.7:c.874-27_874-26delinsCA ENSP00000371818.3:n.874-27_874-26delinsCA
ENST00000563623.5:n.1437-27_1437-26delinsCA
NM_001089.2:c.874-27_874-26delinsCA NP_001080.2:n.874-27_874-26delinsCA
NM_001089.3:c.874-27_874-26delinsCA MANE Select NP_001080.2:n.874-27_874-26delinsCA