Canonical Allele Identifier: CA638690339

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs1568964507
• gnomAD v2: 22-24176703-ACAGGTCATGTTCAATTTCTT-A
• gnomAD v4: 22-23834516-ACAGGTCATGTTCAATTTCTT-A
• MyVariant Identifiers: chr22:g.24176704_24176723del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834519_23834538del , CM000684.2:g.23834519_23834538del	GRCh38
NC_000022.10:g.24176706_24176725del , CM000684.1:g.24176706_24176725del	GRCh37
NC_000022.9:g.22506706_22506725del	NCBI36
NG_009303.1:g.52557_52576del , LRG_520:g.52557_52576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2333_*2352del (DERL3) MANE Select	ENSP00000315303.8:n.*2333_*2352del
ENST00000407422.8:c.*339_*358del (SMARCB1)	ENSP00000383984.3:n.*339_*358del
ENST00000644036.2:c.*339_*358del (SMARCB1) MANE Select	ENSP00000494049.2:n.*339_*358del
ENST00000290730.11:n.3492_3511del (DERL3)
ENST00000404056.1:c.*2524_*2543del (DERL3)	ENSP00000384473.1:n.*2524_*2543del
ENST00000406855.7:c.*291_*310del (DERL3)	ENSP00000384744.3:n.*291_*310del
ENST00000464023.1:n.612_631del (DERL3)
NM_001002862.2:c.*2333_*2352del (DERL3)	NP_001002862.1:n.*2333_*2352del
NM_001135751.1:c.*291_*310del (DERL3)	NP_001129223.1:n.*291_*310del
NM_198440.3:c.*2524_*2543del (DERL3)	NP_940842.2:n.*2524_*2543del
XM_011530504.1:c.*291_*310del (DERL3)	XP_011528806.1:n.*291_*310del
XM_011530506.1:c.*356_*375del (DERL3)	XP_011528808.1:n.*356_*375del
XM_011530507.1:c.*291_*310del (DERL3)	XP_011528809.1:n.*291_*310del
NM_001363072.1:c.*356_*375del (DERL3)	NP_001350001.1:n.*356_*375del
XM_017029082.2:c.*291_*310del (DERL3)	XP_016884571.1:n.*291_*310del
NM_001002862.3:c.*2333_*2352del (DERL3) MANE Select	NP_001002862.1:n.*2333_*2352del
NM_001007468.3:c.*339_*358del (SMARCB1)	NP_001007469.1:n.*339_*358del
NM_001135751.2:c.*291_*310del (DERL3)	NP_001129223.1:n.*291_*310del
NM_001317946.2:c.*339_*358del (SMARCB1)	NP_001304875.1:n.*339_*358del
NM_001362877.2:c.*339_*358del (SMARCB1)	NP_001349806.1:n.*339_*358del
NM_001363072.2:c.*356_*375del (DERL3)	NP_001350001.1:n.*356_*375del
NM_003073.5:c.*339_*358del (SMARCB1) MANE Select	NP_003064.2:n.*339_*358del
NM_198440.4:c.*2524_*2543del (DERL3)	NP_940842.2:n.*2524_*2543del