Canonical Allele Identifier: CA2655715710

Gene: DERL3 SMARCB1

Linked Data

• gnomAD v4: 22-23834539-A-ACAGGTCATGTTCAATTTCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834539_23834540insCAGGTCATGTTCAATTTCTTC , CM000684.2:g.23834539_23834540insCAGGTCATGTTCAATTTCTTC	GRCh38
NC_000022.10:g.24176726_24176727insCAGGTCATGTTCAATTTCTTC , CM000684.1:g.24176726_24176727insCAGGTCATGTTCAATTTCTTC	GRCh37
NC_000022.9:g.22506726_22506727insCAGGTCATGTTCAATTTCTTC	NCBI36
NG_009303.1:g.52577_52578insCAGGTCATGTTCAATTTCTTC , LRG_520:g.52577_52578insCAGGTCATGTTCAATTTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2329_*2330insGAAGAAATTGAACATGACCTG (DERL3) MANE Select	ENSP00000315303.8:n.*2329_*2330insGAAGAAATTGAACATGACCTG
ENST00000407422.8:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1)	ENSP00000383984.3:n.*359_*360insCAGGTCATGTTCAATTTCTTC
ENST00000644036.2:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1) MANE Select	ENSP00000494049.2:n.*359_*360insCAGGTCATGTTCAATTTCTTC
ENST00000290730.11:n.3488_3489insGAAGAAATTGAACATGACCTG (DERL3)
ENST00000404056.1:c.*2520_*2521insGAAGAAATTGAACATGACCTG (DERL3)	ENSP00000384473.1:n.*2520_*2521insGAAGAAATTGAACATGACCTG
ENST00000406855.7:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	ENSP00000384744.3:n.*287_*288insGAAGAAATTGAACATGACCTG
ENST00000464023.1:n.608_609insGAAGAAATTGAACATGACCTG (DERL3)
NM_001002862.2:c.*2329_*2330insGAAGAAATTGAACATGACCTG (DERL3)	NP_001002862.1:n.*2329_*2330insGAAGAAATTGAACATGACCTG
NM_001135751.1:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	NP_001129223.1:n.*287_*288insGAAGAAATTGAACATGACCTG
NM_198440.3:c.*2520_*2521insGAAGAAATTGAACATGACCTG (DERL3)	NP_940842.2:n.*2520_*2521insGAAGAAATTGAACATGACCTG
XM_011530504.1:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	XP_011528806.1:n.*287_*288insGAAGAAATTGAACATGACCTG
XM_011530506.1:c.*352_*353insGAAGAAATTGAACATGACCTG (DERL3)	XP_011528808.1:n.*352_*353insGAAGAAATTGAACATGACCTG
XM_011530507.1:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	XP_011528809.1:n.*287_*288insGAAGAAATTGAACATGACCTG
NM_001363072.1:c.*352_*353insGAAGAAATTGAACATGACCTG (DERL3)	NP_001350001.1:n.*352_*353insGAAGAAATTGAACATGACCTG
XM_017029082.2:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	XP_016884571.1:n.*287_*288insGAAGAAATTGAACATGACCTG
NM_001002862.3:c.*2329_*2330insGAAGAAATTGAACATGACCTG (DERL3) MANE Select	NP_001002862.1:n.*2329_*2330insGAAGAAATTGAACATGACCTG
NM_001007468.3:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1)	NP_001007469.1:n.*359_*360insCAGGTCATGTTCAATTTCTTC
NM_001135751.2:c.*287_*288insGAAGAAATTGAACATGACCTG (DERL3)	NP_001129223.1:n.*287_*288insGAAGAAATTGAACATGACCTG
NM_001317946.2:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1)	NP_001304875.1:n.*359_*360insCAGGTCATGTTCAATTTCTTC
NM_001362877.2:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1)	NP_001349806.1:n.*359_*360insCAGGTCATGTTCAATTTCTTC
NM_001363072.2:c.*352_*353insGAAGAAATTGAACATGACCTG (DERL3)	NP_001350001.1:n.*352_*353insGAAGAAATTGAACATGACCTG
NM_003073.5:c.*359_*360insCAGGTCATGTTCAATTTCTTC (SMARCB1) MANE Select	NP_003064.2:n.*359_*360insCAGGTCATGTTCAATTTCTTC
NM_198440.4:c.*2520_*2521insGAAGAAATTGAACATGACCTG (DERL3)	NP_940842.2:n.*2520_*2521insGAAGAAATTGAACATGACCTG