Canonical Allele Identifier: CA1024503584

Gene: SMARCB1

Linked Data

• gnomAD v3: 22-23834494-C-CAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAG
• gnomAD v4: 22-23834494-C-CAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834539_23834540insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , CM000684.2:g.23834539_23834540insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA	GRCh38
NC_000022.10:g.24176726_24176727insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , CM000684.1:g.24176726_24176727insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA	GRCh37
NC_000022.9:g.22506726_22506727insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA	NCBI36
NG_009303.1:g.52577_52578insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA , LRG_520:g.52577_52578insGAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTTCAA

Transcript Alleles

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