Canonical Allele Identifier: CA2397981348
Gene: DERL3 HGNC NCBI
SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834524T= , CM000684.2:g.23834524T= GRCh38
NC_000022.10:g.24176711T= , CM000684.1:g.24176711T= GRCh37
NC_000022.9:g.22506711T= NCBI36
NG_009303.1:g.52562T= , LRG_520:g.52562T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000318109.12:c.*2345A= (DERL3) MANE Select ENSP00000315303.8:n.*2345A=
ENST00000407422.8:c.*344T= (SMARCB1) ENSP00000383984.3:n.*344T=
ENST00000644036.2:c.*344T= (SMARCB1) MANE Select ENSP00000494049.2:n.*344T=
ENST00000290730.11:n.3504A= (DERL3)
ENST00000404056.1:c.*2536A= (DERL3) ENSP00000384473.1:n.*2536A=
ENST00000406855.7:c.*303A= (DERL3) ENSP00000384744.3:n.*303A=
ENST00000464023.1:n.624A= (DERL3)
NM_001002862.2:c.*2345A= (DERL3) NP_001002862.1:n.*2345A=
NM_001135751.1:c.*303A= (DERL3) NP_001129223.1:n.*303A=
NM_198440.3:c.*2536A= (DERL3) NP_940842.2:n.*2536A=
XM_011530504.1:c.*303A= (DERL3) XP_011528806.1:n.*303A=
XM_011530506.1:c.*368A= (DERL3) XP_011528808.1:n.*368A=
XM_011530507.1:c.*303A= (DERL3) XP_011528809.1:n.*303A=
NM_001363072.1:c.*368A= (DERL3) NP_001350001.1:n.*368A=
XM_017029082.2:c.*303A= (DERL3) XP_016884571.1:n.*303A=
NM_001002862.3:c.*2345A= (DERL3) MANE Select NP_001002862.1:n.*2345A=
NM_001007468.3:c.*344T= (SMARCB1) NP_001007469.1:n.*344T=
NM_001135751.2:c.*303A= (DERL3) NP_001129223.1:n.*303A=
NM_001317946.2:c.*344T= (SMARCB1) NP_001304875.1:n.*344T=
NM_001362877.2:c.*344T= (SMARCB1) NP_001349806.1:n.*344T=
NM_001363072.2:c.*368A= (DERL3) NP_001350001.1:n.*368A=
NM_003073.5:c.*344T= (SMARCB1) MANE Select NP_003064.2:n.*344T=
NM_198440.4:c.*2536A= (DERL3) NP_940842.2:n.*2536A=