Canonical Allele Identifier: CA2746816771
Gene: SOAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179354305_179354307del , CM000663.2:g.179354305_179354307del GRCh38
NC_000001.10:g.179323440_179323442del , CM000663.1:g.179323440_179323442del GRCh37
NC_000001.9:g.177590063_177590065del NCBI36
NG_030638.1:g.65592_65594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367619.8:c.*664_*666del MANE Select ENSP00000356591.3:n.*664_*666del
ENST00000367619.7:c.*664_*666del ENSP00000356591.3:n.*664_*666del
ENST00000539888.5:c.*664_*666del ENSP00000441356.1:n.*664_*666del
ENST00000540564.5:c.*664_*666del ENSP00000445315.1:n.*664_*666del
NM_001252511.1:c.*664_*666del NP_001239440.1:n.*664_*666del
NM_001252512.1:c.*664_*666del NP_001239441.1:n.*664_*666del
NM_003101.5:c.*664_*666del NP_003092.4:n.*664_*666del
NR_045530.1:n.2467_2469del
XM_011509911.1:c.*664_*666del XP_011508213.1:n.*664_*666del
NM_003101.6:c.*664_*666del MANE Select NP_003092.4:n.*664_*666del
NR_045530.2:n.2384_2386del
NM_001252511.2:c.*664_*666del NP_001239440.1:n.*664_*666del
NM_001252512.2:c.*664_*666del NP_001239441.1:n.*664_*666del