Canonical Allele Identifier: CA2698260228
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102735843
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432280_229432289del , CM000663.2:g.229432280_229432289del GRCh38
NC_000001.10:g.229568027_229568036del , CM000663.1:g.229568027_229568036del GRCh37
NC_000001.9:g.227634650_227634659del NCBI36
NG_006672.1:g.6808_6817del , LRG_429:g.6808_6817del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.597_606del ENSP00000355644.4:p.Tyr200Ter
ENST00000684723.1:c.462_471del ENSP00000508084.1:p.Tyr155Ter
ENST00000366683.3:c.479+118_479+127del ENSP00000355644.3:n.479+118_479+127del
ENST00000366684.7:c.597_606del MANE Select ENSP00000355645.3:p.Tyr200Ter
NM_001100.3:c.597_606del , LRG_429t1:c.597_606del NP_001091.1:p.Tyr200Ter
NM_001100.4:c.597_606del MANE Select NP_001091.1:p.Tyr200Ter
Search 100 bp 5'
Search 100 bp 3'