Canonical Allele Identifier: CA10146155
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2652974
ClinVar RCV Id: RCV003433178
dbSNP Id: rs5030614
ExAC: 22:24176677 G / GCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT
gnomAD v2: 22-24176677-G-GCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT
gnomAD v3: 22-23834490-G-GCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT
gnomAD v4: 22-23834490-G-GCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT
MyVariant Identifiers: chr22:g.24176700_24176701insCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT (hg19) chr22:g.23834513_23834514insCAACAGGTCATGTTCAATTTCTTCAACAGGTCATGTTCAATTTCTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834494_23834539dup , CM000684.2:g.23834494_23834539dup GRCh38
NC_000022.10:g.24176681_24176726dup , CM000684.1:g.24176681_24176726dup GRCh37
NC_000022.9:g.22506681_22506726dup NCBI36
NG_009303.1:g.52532_52577dup , LRG_520:g.52532_52577dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000407422.8:c.*314_*359dup ENSP00000383984.3:n.*314_*359dup
ENST00000644036.2:c.*314_*359dup MANE Select ENSP00000494049.2:n.*314_*359dup
NM_001007468.3:c.*314_*359dup NP_001007469.1:n.*314_*359dup
NM_001317946.2:c.*314_*359dup NP_001304875.1:n.*314_*359dup
NM_001362877.2:c.*314_*359dup NP_001349806.1:n.*314_*359dup
NM_003073.5:c.*314_*359dup MANE Select NP_003064.2:n.*314_*359dup
Search 100 bp 5'
Search 100 bp 3'