Canonical Allele Identifier: CA2521829518

Gene: SOAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354228_179354229insCTGCTATCTCT , CM000663.2:g.179354228_179354229insCTGCTATCTCT	GRCh38
NC_000001.10:g.179323363_179323364insCTGCTATCTCT , CM000663.1:g.179323363_179323364insCTGCTATCTCT	GRCh37
NC_000001.9:g.177589986_177589987insCTGCTATCTCT	NCBI36
NG_030638.1:g.65515_65516insCTGCTATCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367619.8:c.*587_*588insCTGCTATCTCT MANE Select	ENSP00000356591.3:n.*587_*588insCTGCTATCTCT
ENST00000367619.7:c.*587_*588insCTGCTATCTCT	ENSP00000356591.3:n.*587_*588insCTGCTATCTCT
ENST00000539888.5:c.*587_*588insCTGCTATCTCT	ENSP00000441356.1:n.*587_*588insCTGCTATCTCT
ENST00000540564.5:c.*587_*588insCTGCTATCTCT	ENSP00000445315.1:n.*587_*588insCTGCTATCTCT
NM_001252511.1:c.*587_*588insCTGCTATCTCT	NP_001239440.1:n.*587_*588insCTGCTATCTCT
NM_001252512.1:c.*587_*588insCTGCTATCTCT	NP_001239441.1:n.*587_*588insCTGCTATCTCT
NM_003101.5:c.*587_*588insCTGCTATCTCT	NP_003092.4:n.*587_*588insCTGCTATCTCT
NR_045530.1:n.2390_2391insCTGCTATCTCT
XM_011509911.1:c.*587_*588insCTGCTATCTCT	XP_011508213.1:n.*587_*588insCTGCTATCTCT
NM_003101.6:c.*587_*588insCTGCTATCTCT MANE Select	NP_003092.4:n.*587_*588insCTGCTATCTCT
NR_045530.2:n.2307_2308insCTGCTATCTCT
NM_001252511.2:c.*587_*588insCTGCTATCTCT	NP_001239440.1:n.*587_*588insCTGCTATCTCT
NM_001252512.2:c.*587_*588insCTGCTATCTCT	NP_001239441.1:n.*587_*588insCTGCTATCTCT