Canonical Allele Identifier: CA891805106

Gene: SOAT1

Linked Data

• dbSNP Id: rs1480102961
• gnomAD v3: 1-179354457-ATCACAAACT-A
• gnomAD v4: 1-179354457-ATCACAAACT-A
• MyVariant Identifiers: chr1:g.179323593_179323601del (hg19) ; chr1:g.179354458_179354466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179354459_179354467del , CM000663.2:g.179354459_179354467del	GRCh38
NC_000001.10:g.179323594_179323602del , CM000663.1:g.179323594_179323602del	GRCh37
NC_000001.9:g.177590217_177590225del	NCBI36
NG_030638.1:g.65746_65754del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367619.8:c.*818_*826del MANE Select	ENSP00000356591.3:n.*818_*826del
ENST00000367619.7:c.*818_*826del	ENSP00000356591.3:n.*818_*826del
ENST00000539888.5:c.*818_*826del	ENSP00000441356.1:n.*818_*826del
ENST00000540564.5:c.*818_*826del	ENSP00000445315.1:n.*818_*826del
NM_001252511.1:c.*818_*826del	NP_001239440.1:n.*818_*826del
NM_001252512.1:c.*818_*826del	NP_001239441.1:n.*818_*826del
NM_003101.5:c.*818_*826del	NP_003092.4:n.*818_*826del
NR_045530.1:n.2621_2629del
XM_011509911.1:c.*818_*826del	XP_011508213.1:n.*818_*826del
NM_003101.6:c.*818_*826del MANE Select	NP_003092.4:n.*818_*826del
NR_045530.2:n.2538_2546del
NM_001252511.2:c.*818_*826del	NP_001239440.1:n.*818_*826del
NM_001252512.2:c.*818_*826del	NP_001239441.1:n.*818_*826del