Canonical Allele Identifier: CA2397981343

Gene: DERL3 SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834516_23834536delinsACAGGTCATGTTCAATTTCTT , CM000684.2:g.23834516_23834536delinsACAGGTCATGTTCAATTTCTT	GRCh38
NC_000022.10:g.24176703_24176723delinsACAGGTCATGTTCAATTTCTT , CM000684.1:g.24176703_24176723delinsACAGGTCATGTTCAATTTCTT	GRCh37
NC_000022.9:g.22506703_22506723delinsACAGGTCATGTTCAATTTCTT	NCBI36
NG_009303.1:g.52554_52574delinsACAGGTCATGTTCAATTTCTT , LRG_520:g.52554_52574delinsACAGGTCATGTTCAATTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2333_*2353delinsAAGAAATTGAACATGACCTGT (DERL3) MANE Select	ENSP00000315303.8:n.*2333_*2353delinsAAGAAATTGAACATGACCTGT
ENST00000407422.8:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1)	ENSP00000383984.3:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
ENST00000644036.2:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1) MANE Select	ENSP00000494049.2:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
ENST00000290730.11:n.3492_3512delinsAAGAAATTGAACATGACCTGT (DERL3)
ENST00000404056.1:c.*2524_*2544delinsAAGAAATTGAACATGACCTGT (DERL3)	ENSP00000384473.1:n.*2524_*2544delinsAAGAAATTGAACATGACCTGT
ENST00000406855.7:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	ENSP00000384744.3:n.*291_*311delinsAAGAAATTGAACATGACCTGT
ENST00000464023.1:n.612_632delinsAAGAAATTGAACATGACCTGT (DERL3)
NM_001002862.2:c.*2333_*2353delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_001002862.1:n.*2333_*2353delinsAAGAAATTGAACATGACCTGT
NM_001135751.1:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_001129223.1:n.*291_*311delinsAAGAAATTGAACATGACCTGT
NM_198440.3:c.*2524_*2544delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_940842.2:n.*2524_*2544delinsAAGAAATTGAACATGACCTGT
XM_011530504.1:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	XP_011528806.1:n.*291_*311delinsAAGAAATTGAACATGACCTGT
XM_011530506.1:c.*356_*376delinsAAGAAATTGAACATGACCTGT (DERL3)	XP_011528808.1:n.*356_*376delinsAAGAAATTGAACATGACCTGT
XM_011530507.1:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	XP_011528809.1:n.*291_*311delinsAAGAAATTGAACATGACCTGT
NM_001363072.1:c.*356_*376delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_001350001.1:n.*356_*376delinsAAGAAATTGAACATGACCTGT
XM_017029082.2:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	XP_016884571.1:n.*291_*311delinsAAGAAATTGAACATGACCTGT
NM_001002862.3:c.*2333_*2353delinsAAGAAATTGAACATGACCTGT (DERL3) MANE Select	NP_001002862.1:n.*2333_*2353delinsAAGAAATTGAACATGACCTGT
NM_001007468.3:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1)	NP_001007469.1:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
NM_001135751.2:c.*291_*311delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_001129223.1:n.*291_*311delinsAAGAAATTGAACATGACCTGT
NM_001317946.2:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1)	NP_001304875.1:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
NM_001362877.2:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1)	NP_001349806.1:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
NM_001363072.2:c.*356_*376delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_001350001.1:n.*356_*376delinsAAGAAATTGAACATGACCTGT
NM_003073.5:c.*336_*356delinsACAGGTCATGTTCAATTTCTT (SMARCB1) MANE Select	NP_003064.2:n.*336_*356delinsACAGGTCATGTTCAATTTCTT
NM_198440.4:c.*2524_*2544delinsAAGAAATTGAACATGACCTGT (DERL3)	NP_940842.2:n.*2524_*2544delinsAAGAAATTGAACATGACCTGT