Canonical Allele Identifier: CA2818530666

Gene: DERL3 SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834506_23834527del , CM000684.2:g.23834506_23834527del	GRCh38
NC_000022.10:g.24176693_24176714del , CM000684.1:g.24176693_24176714del	GRCh37
NC_000022.9:g.22506693_22506714del	NCBI36
NG_009303.1:g.52544_52565del , LRG_520:g.52544_52565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2342_*2363del (DERL3) MANE Select	ENSP00000315303.8:n.*2342_*2363del
ENST00000407422.8:c.*326_*347del (SMARCB1)	ENSP00000383984.3:n.*326_*347del
ENST00000644036.2:c.*326_*347del (SMARCB1) MANE Select	ENSP00000494049.2:n.*326_*347del
ENST00000290730.11:n.3501_3522del (DERL3)
ENST00000404056.1:c.*2533_*2554del (DERL3)	ENSP00000384473.1:n.*2533_*2554del
ENST00000406855.7:c.*300_*321del (DERL3)	ENSP00000384744.3:n.*300_*321del
ENST00000464023.1:n.621_642del (DERL3)
NM_001002862.2:c.*2342_*2363del (DERL3)	NP_001002862.1:n.*2342_*2363del
NM_001135751.1:c.*300_*321del (DERL3)	NP_001129223.1:n.*300_*321del
NM_198440.3:c.*2533_*2554del (DERL3)	NP_940842.2:n.*2533_*2554del
XM_011530504.1:c.*300_*321del (DERL3)	XP_011528806.1:n.*300_*321del
XM_011530506.1:c.*365_*386del (DERL3)	XP_011528808.1:n.*365_*386del
XM_011530507.1:c.*300_*321del (DERL3)	XP_011528809.1:n.*300_*321del
NM_001363072.1:c.*365_*386del (DERL3)	NP_001350001.1:n.*365_*386del
XM_017029082.2:c.*300_*321del (DERL3)	XP_016884571.1:n.*300_*321del
NM_001002862.3:c.*2342_*2363del (DERL3) MANE Select	NP_001002862.1:n.*2342_*2363del
NM_001007468.3:c.*326_*347del (SMARCB1)	NP_001007469.1:n.*326_*347del
NM_001135751.2:c.*300_*321del (DERL3)	NP_001129223.1:n.*300_*321del
NM_001317946.2:c.*326_*347del (SMARCB1)	NP_001304875.1:n.*326_*347del
NM_001362877.2:c.*326_*347del (SMARCB1)	NP_001349806.1:n.*326_*347del
NM_001363072.2:c.*365_*386del (DERL3)	NP_001350001.1:n.*365_*386del
NM_003073.5:c.*326_*347del (SMARCB1) MANE Select	NP_003064.2:n.*326_*347del
NM_198440.4:c.*2533_*2554del (DERL3)	NP_940842.2:n.*2533_*2554del