Canonical Allele Identifier: CA2259640340
Gene: SMARCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40628367_40628368delinsCA , CM000679.2:g.40628367_40628368delinsCA GRCh38
NC_000017.10:g.38784619_38784620delinsCA , CM000679.1:g.38784619_38784620delinsCA GRCh37
NC_000017.9:g.36038145_36038146delinsCA NCBI36
NG_032163.1:g.24484_24485delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264640.9:c.*1215_*1216delinsTG ENSP00000466608.2:n.*1215_*1216delinsTG
ENST00000348513.12:c.*417_*418delinsTG MANE Select ENSP00000323967.6:n.*417_*418delinsTG
ENST00000377808.9:c.*640_*641delinsTG ENSP00000367039.4:n.*640_*641delinsTG
ENST00000400122.8:c.*640_*641delinsTG ENSP00000411607.2:n.*640_*641delinsTG
ENST00000469334.6:n.2251_2252delinsTG
ENST00000578112.6:c.*1450_*1451delinsTG ENSP00000464501.1:n.*1450_*1451delinsTG
ENST00000580419.6:c.*632_*633delinsTG ENSP00000462475.2:n.*632_*633delinsTG
ENST00000642576.1:n.2796_2797delinsTG
ENST00000643030.1:n.2276_2277delinsTG
ENST00000643255.1:c.*3717_*3718delinsTG ENSP00000493957.1:n.*3717_*3718delinsTG
ENST00000643318.1:c.*417_*418delinsTG ENSP00000494771.1:n.*417_*418delinsTG
ENST00000643378.1:n.2208_2209delinsTG
ENST00000643683.1:c.*417_*418delinsTG ENSP00000496094.1:n.*417_*418delinsTG
ENST00000643893.1:n.1946_1947delinsTG
ENST00000644443.1:n.3541_3542delinsTG
ENST00000644523.1:n.1699_1700delinsTG
ENST00000644527.1:c.*417_*418delinsTG ENSP00000493974.1:n.*417_*418delinsTG
ENST00000644701.1:c.*640_*641delinsTG ENSP00000496097.1:n.*640_*641delinsTG
ENST00000644909.1:c.*922_*923delinsTG ENSP00000493649.1:n.*922_*923delinsTG
ENST00000645152.1:n.2316_2317delinsTG
ENST00000645227.1:c.*1341_*1342delinsTG ENSP00000495021.1:n.*1341_*1342delinsTG
ENST00000646242.1:n.7565_7566delinsTG
ENST00000646283.1:c.*417_*418delinsTG ENSP00000494537.1:n.*417_*418delinsTG
ENST00000646401.1:n.3019_3020delinsTG
ENST00000646856.1:c.*1529_*1530delinsTG ENSP00000494505.1:n.*1529_*1530delinsTG
ENST00000647294.1:c.*1583_*1584delinsTG ENSP00000494815.1:n.*1583_*1584delinsTG
ENST00000647508.1:c.*417_*418delinsTG ENSP00000496445.1:n.*417_*418delinsTG
ENST00000647515.1:c.*1184_*1185delinsTG ENSP00000495857.1:n.*1184_*1185delinsTG
ENST00000348513.10:c.*417_*418delinsTG ENSP00000323967.6:n.*417_*418delinsTG
ENST00000578112.5:c.*1450_*1451delinsTG ENSP00000464501.1:n.*1450_*1451delinsTG
NM_003079.4:c.*417_*418delinsTG NP_003070.3:n.*417_*418delinsTG
NM_003079.5:c.*417_*418delinsTG MANE Select NP_003070.3:n.*417_*418delinsTG