Canonical Allele Identifier: CA16620403
Gene: SMARCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423947
ClinVar RCV Id: RCV000486403
dbSNP Id: rs1064796712

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40637577_40637578delinsTT , CM000679.2:g.40637577_40637578delinsTT GRCh38
NC_000017.10:g.38793829_38793830delinsTT , CM000679.1:g.38793829_38793830delinsTT GRCh37
NC_000017.9:g.36047355_36047356delinsTT NCBI36
NG_032163.1:g.15274_15275delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000264640.9:c.157-6_157-5delinsAA ENSP00000466608.2:n.157-6_157-5delinsAA
ENST00000348513.12:c.157-6_157-5delinsAA MANE Select ENSP00000323967.6:n.157-6_157-5delinsAA
ENST00000377808.9:c.52-6_52-5delinsAA ENSP00000367039.4:n.52-6_52-5delinsAA
ENST00000400122.8:c.-54-6_-54-5delinsAA ENSP00000411607.2:n.-54-6_-54-5delinsAA
ENST00000447024.6:c.157-6_157-5delinsAA ENSP00000392958.2:n.157-6_157-5delinsAA
ENST00000469334.6:n.254-6_254-5delinsAA
ENST00000478349.7:c.109-6_109-5delinsAA ENSP00000463216.2:n.109-6_109-5delinsAA
ENST00000481231.6:c.*260-6_*260-5delinsAA ENSP00000462381.2:n.*260-6_*260-5delinsAA...
ENST00000493660.6:n.167-6_167-5delinsAA
ENST00000577721.6:c.-54-6_-54-5delinsAA ENSP00000462857.2:n.-54-6_-54-5delinsAA
ENST00000578044.6:c.-54-6_-54-5delinsAA ENSP00000464511.1:n.-54-6_-54-5delinsAA
ENST00000578112.6:c.113-6_113-5delinsAA ENSP00000464501.1:n.113-6_113-5delinsAA
ENST00000578995.6:n.154_155delinsAA
ENST00000580419.6:c.52-6_52-5delinsAA ENSP00000462475.2:n.52-6_52-5delinsAA
ENST00000580654.6:c.103-6_103-5delinsAA ENSP00000464061.2:n.103-6_103-5delinsAA
ENST00000582955.6:c.157-6_157-5delinsAA ENSP00000463282.2:n.157-6_157-5delinsAA
ENST00000642459.1:c.-54-6_-54-5delinsAA ENSP00000496546.1:n.-54-6_-54-5delinsAA
ENST00000642576.1:n.132-6_132-5delinsAA
ENST00000643030.1:n.113-6_113-5delinsAA
ENST00000643255.1:c.*2221-6_*2221-5delinsAA ENSP00000493957.1:n.*2221-6_*2221-5delins...
ENST00000643318.1:c.-54-6_-54-5delinsAA ENSP00000494771.1:n.-54-6_-54-5delinsAA
ENST00000643683.1:c.157-6_157-5delinsAA ENSP00000496094.1:n.157-6_157-5delinsAA
ENST00000644257.1:n.119-6_119-5delinsAA
ENST00000644523.1:n.203-6_203-5delinsAA
ENST00000644527.1:c.-54-6_-54-5delinsAA ENSP00000493974.1:n.-54-6_-54-5delinsAA
ENST00000644701.1:c.157-6_157-5delinsAA ENSP00000496097.1:n.157-6_157-5delinsAA
ENST00000644909.1:c.-54-6_-54-5delinsAA ENSP00000493649.1:n.-54-6_-54-5delinsAA
ENST00000645104.1:c.52-6_52-5delinsAA ENSP00000496311.1:n.52-6_52-5delinsAA
ENST00000645152.1:n.153-6_153-5delinsAA
ENST00000645155.1:n.258-6_258-5delinsAA
ENST00000645227.1:c.-54-6_-54-5delinsAA ENSP00000495021.1:n.-54-6_-54-5delinsAA
ENST00000645478.1:c.59-6_59-5delinsAA
ENST00000645663.1:n.139-6_139-5delinsAA
ENST00000646242.1:n.285-6_285-5delinsAA
ENST00000646283.1:c.-54-6_-54-5delinsAA ENSP00000494537.1:n.-54-6_-54-5delinsAA
ENST00000646401.1:n.276-6_276-5delinsAA
ENST00000646448.1:n.263-6_263-5delinsAA
ENST00000646482.1:c.157-6_157-5delinsAA ENSP00000496661.1:n.157-6_157-5delinsAA
ENST00000646856.1:c.113-6_113-5delinsAA ENSP00000494505.1:n.113-6_113-5delinsAA
ENST00000647221.1:n.226-6_226-5delinsAA
ENST00000647294.1:c.*87-6_*87-5delinsAA ENSP00000494815.1:n.*87-6_*87-5delinsAA
ENST00000647347.1:n.152-6_152-5delinsAA
ENST00000647508.1:c.52-6_52-5delinsAA ENSP00000496445.1:n.52-6_52-5delinsAA
ENST00000647515.1:c.-54-6_-54-5delinsAA ENSP00000495857.1:n.-54-6_-54-5delinsAA
ENST00000348513.10:c.157-6_157-5delinsAA ENSP00000323967.6:n.157-6_157-5delinsAA
ENST00000377808.8:c.52-6_52-5delinsAA ENSP00000367039.4:n.52-6_52-5delinsAA
ENST00000400122.7:c.-54-6_-54-5delinsAA ENSP00000411607.2:n.-54-6_-54-5delinsAA
ENST00000431889.6:c.103-6_103-5delinsAA ENSP00000445370.1:n.103-6_103-5delinsAA
ENST00000469334.5:n.243-6_243-5delinsAA
ENST00000476049.1:c.*599-1065_*599-1064delinsAA ENSP00000463483.1:n.*599-1065_*599-1064de...
ENST00000478349.6:c.109-6_109-5delinsAA ENSP00000463216.1:n.109-6_109-5delinsAA
ENST00000481231.5:c.*87-6_*87-5delinsAA ENSP00000462381.1:n.*87-6_*87-5delinsAA
ENST00000493660.5:n.138-6_138-5delinsAA
ENST00000577721.5:c.-54-6_-54-5delinsAA ENSP00000462857.1:n.-54-6_-54-5delinsAA
ENST00000578044.5:c.-54-6_-54-5delinsAA ENSP00000464511.1:n.-54-6_-54-5delinsAA
ENST00000578112.5:c.113-6_113-5delinsAA ENSP00000464501.1:n.113-6_113-5delinsAA
ENST00000578995.5:n.154_155delinsAA
ENST00000580419.5:c.52-6_52-5delinsAA ENSP00000462475.1:n.52-6_52-5delinsAA
ENST00000580654.5:c.103-6_103-5delinsAA ENSP00000464061.1:n.103-6_103-5delinsAA
ENST00000582955.5:c.157-6_157-5delinsAA ENSP00000463282.1:n.157-6_157-5delinsAA
NM_003079.4:c.157-6_157-5delinsAA NP_003070.3:n.157-6_157-5delinsAA
NM_003079.5:c.157-6_157-5delinsAA MANE Select NP_003070.3:n.157-6_157-5delinsAA