Canonical Allele Identifier: CA2746816764
Gene: SOAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179354289_179354290insAAACACGTAACGACAAGT , CM000663.2:g.179354289_179354290insAAACACGTAACGACAAGT GRCh38
NC_000001.10:g.179323424_179323425insAAACACGTAACGACAAGT , CM000663.1:g.179323424_179323425insAAACACGTAACGACAAGT GRCh37
NC_000001.9:g.177590047_177590048insAAACACGTAACGACAAGT NCBI36
NG_030638.1:g.65576_65577insAAACACGTAACGACAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367619.8:c.*648_*649insAAACACGTAACGACAAGT MANE Select ENSP00000356591.3:n.*648_*649insAAACACGTAACGACAAGT
ENST00000367619.7:c.*648_*649insAAACACGTAACGACAAGT ENSP00000356591.3:n.*648_*649insAAACACGTAACGACAAGT
ENST00000539888.5:c.*648_*649insAAACACGTAACGACAAGT ENSP00000441356.1:n.*648_*649insAAACACGTAACGACAAGT
ENST00000540564.5:c.*648_*649insAAACACGTAACGACAAGT ENSP00000445315.1:n.*648_*649insAAACACGTAACGACAAGT
NM_001252511.1:c.*648_*649insAAACACGTAACGACAAGT NP_001239440.1:n.*648_*649insAAACACGTAACGACAAGT
NM_001252512.1:c.*648_*649insAAACACGTAACGACAAGT NP_001239441.1:n.*648_*649insAAACACGTAACGACAAGT
NM_003101.5:c.*648_*649insAAACACGTAACGACAAGT NP_003092.4:n.*648_*649insAAACACGTAACGACAAGT
NR_045530.1:n.2451_2452insAAACACGTAACGACAAGT
XM_011509911.1:c.*648_*649insAAACACGTAACGACAAGT XP_011508213.1:n.*648_*649insAAACACGTAACGACAAGT
NM_003101.6:c.*648_*649insAAACACGTAACGACAAGT MANE Select NP_003092.4:n.*648_*649insAAACACGTAACGACAAGT
NR_045530.2:n.2368_2369insAAACACGTAACGACAAGT
NM_001252511.2:c.*648_*649insAAACACGTAACGACAAGT NP_001239440.1:n.*648_*649insAAACACGTAACGACAAGT
NM_001252512.2:c.*648_*649insAAACACGTAACGACAAGT NP_001239441.1:n.*648_*649insAAACACGTAACGACAAGT