Canonical Allele Identifier: CA638690297
Gene: SMARCB1 HGNC NCBI

Linked Data

dbSNP Id: rs5030614

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834539_23834540insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , CM000684.2:g.23834539_23834540insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA GRCh38
NC_000022.10:g.24176726_24176727insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , CM000684.1:g.24176726_24176727insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA GRCh37
NC_000022.9:g.22506726_22506727insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA NCBI36
NG_009303.1:g.52577_52578insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , LRG_520:g.52577_52578insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000407422.8:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA ENSP00000383984.3:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTC...
ENST00000644036.2:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA MANE Select ENSP00000494049.2:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTC...
NM_001007468.3:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA NP_001007469.1:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATG...
NM_001317946.2:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA NP_001304875.1:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATG...
NM_001362877.2:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA NP_001349806.1:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATG...
NM_003073.5:c.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA MANE Select NP_003064.2:n.*359_*360insCAGGTCATGTTCAATTTCTTCAACAGGTCATGTTC...