Canonical Allele Identifier: CA638690335

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs1290088641
• gnomAD v2: 22-24176695-TTTCTTCAACAGGTCATGTTC-T
• gnomAD v4: 22-23834508-TTTCTTCAACAGGTCATGTTC-T
• MyVariant Identifiers: chr22:g.24176696_24176715del (hg19) ; chr22:g.23834509_23834528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834509_23834528del , CM000684.2:g.23834509_23834528del	GRCh38
NC_000022.10:g.24176696_24176715del , CM000684.1:g.24176696_24176715del	GRCh37
NC_000022.9:g.22506696_22506715del	NCBI36
NG_009303.1:g.52547_52566del , LRG_520:g.52547_52566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2341_*2360del (DERL3) MANE Select	ENSP00000315303.8:n.*2341_*2360del
ENST00000407422.8:c.*329_*348del (SMARCB1)	ENSP00000383984.3:n.*329_*348del
ENST00000644036.2:c.*329_*348del (SMARCB1) MANE Select	ENSP00000494049.2:n.*329_*348del
ENST00000290730.11:n.3500_3519del (DERL3)
ENST00000404056.1:c.*2532_*2551del (DERL3)	ENSP00000384473.1:n.*2532_*2551del
ENST00000406855.7:c.*299_*318del (DERL3)	ENSP00000384744.3:n.*299_*318del
ENST00000464023.1:n.620_639del (DERL3)
NM_001002862.2:c.*2341_*2360del (DERL3)	NP_001002862.1:n.*2341_*2360del
NM_001135751.1:c.*299_*318del (DERL3)	NP_001129223.1:n.*299_*318del
NM_198440.3:c.*2532_*2551del (DERL3)	NP_940842.2:n.*2532_*2551del
XM_011530504.1:c.*299_*318del (DERL3)	XP_011528806.1:n.*299_*318del
XM_011530506.1:c.*364_*383del (DERL3)	XP_011528808.1:n.*364_*383del
XM_011530507.1:c.*299_*318del (DERL3)	XP_011528809.1:n.*299_*318del
NM_001363072.1:c.*364_*383del (DERL3)	NP_001350001.1:n.*364_*383del
XM_017029082.2:c.*299_*318del (DERL3)	XP_016884571.1:n.*299_*318del
NM_001002862.3:c.*2341_*2360del (DERL3) MANE Select	NP_001002862.1:n.*2341_*2360del
NM_001007468.3:c.*329_*348del (SMARCB1)	NP_001007469.1:n.*329_*348del
NM_001135751.2:c.*299_*318del (DERL3)	NP_001129223.1:n.*299_*318del
NM_001317946.2:c.*329_*348del (SMARCB1)	NP_001304875.1:n.*329_*348del
NM_001362877.2:c.*329_*348del (SMARCB1)	NP_001349806.1:n.*329_*348del
NM_001363072.2:c.*364_*383del (DERL3)	NP_001350001.1:n.*364_*383del
NM_003073.5:c.*329_*348del (SMARCB1) MANE Select	NP_003064.2:n.*329_*348del
NM_198440.4:c.*2532_*2551del (DERL3)	NP_940842.2:n.*2532_*2551del