Canonical Allele Identifier: CA2746816773

Gene: SOAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354315_179354316insCC , CM000663.2:g.179354315_179354316insCC	GRCh38
NC_000001.10:g.179323450_179323451insCC , CM000663.1:g.179323450_179323451insCC	GRCh37
NC_000001.9:g.177590073_177590074insCC	NCBI36
NG_030638.1:g.65602_65603insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*674_*675insCC MANE Select	ENSP00000356591.3:n.*674_*675insCC
ENST00000367619.7:c.*674_*675insCC	ENSP00000356591.3:n.*674_*675insCC
ENST00000539888.5:c.*674_*675insCC	ENSP00000441356.1:n.*674_*675insCC
ENST00000540564.5:c.*674_*675insCC	ENSP00000445315.1:n.*674_*675insCC
NM_001252511.1:c.*674_*675insCC	NP_001239440.1:n.*674_*675insCC
NM_001252512.1:c.*674_*675insCC	NP_001239441.1:n.*674_*675insCC
NM_003101.5:c.*674_*675insCC	NP_003092.4:n.*674_*675insCC
NR_045530.1:n.2477_2478insCC
XM_011509911.1:c.*674_*675insCC	XP_011508213.1:n.*674_*675insCC
NM_003101.6:c.*674_*675insCC MANE Select	NP_003092.4:n.*674_*675insCC
NR_045530.2:n.2394_2395insCC
NM_001252511.2:c.*674_*675insCC	NP_001239440.1:n.*674_*675insCC
NM_001252512.2:c.*674_*675insCC	NP_001239441.1:n.*674_*675insCC