Canonical Allele Identifier: CA2397981324

Gene: SMARCB1 DERL3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834498_23834514delinsTCATGTTCAATTTCTTC , CM000684.2:g.23834498_23834514delinsTCATGTTCAATTTCTTC	GRCh38
NC_000022.10:g.24176685_24176701delinsTCATGTTCAATTTCTTC , CM000684.1:g.24176685_24176701delinsTCATGTTCAATTTCTTC	GRCh37
NC_000022.9:g.22506685_22506701delinsTCATGTTCAATTTCTTC	NCBI36
NG_009303.1:g.52536_52552delinsTCATGTTCAATTTCTTC , LRG_520:g.52536_52552delinsTCATGTTCAATTTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407422.8:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	ENSP00000383984.3:n.*318_*334delinsTCATGTTCAATTTCTTC
ENST00000644036.2:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1) MANE Select	ENSP00000494049.2:n.*318_*334delinsTCATGTTCAATTTCTTC
ENST00000263121.11:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	ENSP00000263121.7:n.*318_*334delinsTCATGTTCAATTTCTTC
ENST00000344921.10:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	ENSP00000340883.6:n.*318_*334delinsTCATGTTCAATTTCTTC
ENST00000407422.7:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	ENSP00000383984.3:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001007468.1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001007469.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_003073.3:c.*318_*334delinsTCATGTTCAATTTCTTC , LRG_520t1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_003064.2:n.*318_*334delinsTCATGTTCAATTTCTTC
XM_011530345.1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	XP_011528647.1:n.*318_*334delinsTCATGTTCAATTTCTTC
XM_011530346.1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	XP_011528648.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001007468.2:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001007469.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001317946.1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001304875.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001362877.1:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001349806.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_003073.4:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_003064.2:n.*318_*334delinsTCATGTTCAATTTCTTC
XM_017029082.2:c.*313_*329delinsGAAGAAATTGAACATGA (DERL3)	XP_016884571.1:n.*313_*329delinsGAAGAAATTGAACATGA
NM_001007468.3:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001007469.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001317946.2:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001304875.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_001362877.2:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1)	NP_001349806.1:n.*318_*334delinsTCATGTTCAATTTCTTC
NM_003073.5:c.*318_*334delinsTCATGTTCAATTTCTTC (SMARCB1) MANE Select	NP_003064.2:n.*318_*334delinsTCATGTTCAATTTCTTC