Canonical Allele Identifier: CA2397981352
Gene: DERL3 HGNC NCBI
SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834537C= , CM000684.2:g.23834537C= GRCh38
NC_000022.10:g.24176724C= , CM000684.1:g.24176724C= GRCh37
NC_000022.9:g.22506724C= NCBI36
NG_009303.1:g.52575C= , LRG_520:g.52575C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000318109.12:c.*2332G= (DERL3) MANE Select ENSP00000315303.8:n.*2332G=
ENST00000407422.8:c.*357C= (SMARCB1) ENSP00000383984.3:n.*357C=
ENST00000644036.2:c.*357C= (SMARCB1) MANE Select ENSP00000494049.2:n.*357C=
ENST00000290730.11:n.3491G= (DERL3)
ENST00000404056.1:c.*2523G= (DERL3) ENSP00000384473.1:n.*2523G=
ENST00000406855.7:c.*290G= (DERL3) ENSP00000384744.3:n.*290G=
ENST00000464023.1:n.611G= (DERL3)
NM_001002862.2:c.*2332G= (DERL3) NP_001002862.1:n.*2332G=
NM_001135751.1:c.*290G= (DERL3) NP_001129223.1:n.*290G=
NM_198440.3:c.*2523G= (DERL3) NP_940842.2:n.*2523G=
XM_011530504.1:c.*290G= (DERL3) XP_011528806.1:n.*290G=
XM_011530506.1:c.*355G= (DERL3) XP_011528808.1:n.*355G=
XM_011530507.1:c.*290G= (DERL3) XP_011528809.1:n.*290G=
NM_001363072.1:c.*355G= (DERL3) NP_001350001.1:n.*355G=
XM_017029082.2:c.*290G= (DERL3) XP_016884571.1:n.*290G=
NM_001002862.3:c.*2332G= (DERL3) MANE Select NP_001002862.1:n.*2332G=
NM_001007468.3:c.*357C= (SMARCB1) NP_001007469.1:n.*357C=
NM_001135751.2:c.*290G= (DERL3) NP_001129223.1:n.*290G=
NM_001317946.2:c.*357C= (SMARCB1) NP_001304875.1:n.*357C=
NM_001362877.2:c.*357C= (SMARCB1) NP_001349806.1:n.*357C=
NM_001363072.2:c.*355G= (DERL3) NP_001350001.1:n.*355G=
NM_003073.5:c.*357C= (SMARCB1) MANE Select NP_003064.2:n.*357C=
NM_198440.4:c.*2523G= (DERL3) NP_940842.2:n.*2523G=