Canonical Allele Identifier: CA751827289

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs1488589550
• gnomAD v3: 22-23834553-AAAT-A
• gnomAD v4: 22-23834553-AAAT-A
• MyVariant Identifiers: chr22:g.24176741_24176743del (hg19) ; chr22:g.23834554_23834556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834557_23834559del , CM000684.2:g.23834557_23834559del	GRCh38
NC_000022.10:g.24176744_24176746del , CM000684.1:g.24176744_24176746del	GRCh37
NC_000022.9:g.22506744_22506746del	NCBI36
NG_009303.1:g.52595_52597del , LRG_520:g.52595_52597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2313_*2315del (DERL3) MANE Select	ENSP00000315303.8:n.*2313_*2315del
ENST00000644036.2:c.*377_*379del (SMARCB1) MANE Select	ENSP00000494049.2:n.*377_*379del
ENST00000290730.11:n.3472_3474del (DERL3)
ENST00000404056.1:c.*2504_*2506del (DERL3)	ENSP00000384473.1:n.*2504_*2506del
ENST00000406855.7:c.*271_*273del (DERL3)	ENSP00000384744.3:n.*271_*273del
ENST00000464023.1:n.592_594del (DERL3)
NM_001002862.2:c.*2313_*2315del (DERL3)	NP_001002862.1:n.*2313_*2315del
NM_001135751.1:c.*271_*273del (DERL3)	NP_001129223.1:n.*271_*273del
NM_198440.3:c.*2504_*2506del (DERL3)	NP_940842.2:n.*2504_*2506del
XM_011530504.1:c.*271_*273del (DERL3)	XP_011528806.1:n.*271_*273del
XM_011530506.1:c.*336_*338del (DERL3)	XP_011528808.1:n.*336_*338del
XM_011530507.1:c.*271_*273del (DERL3)	XP_011528809.1:n.*271_*273del
NM_001363072.1:c.*336_*338del (DERL3)	NP_001350001.1:n.*336_*338del
XM_017029082.2:c.*271_*273del (DERL3)	XP_016884571.1:n.*271_*273del
NM_001002862.3:c.*2313_*2315del (DERL3) MANE Select	NP_001002862.1:n.*2313_*2315del
NM_001007468.3:c.*377_*379del (SMARCB1)	NP_001007469.1:n.*377_*379del
NM_001135751.2:c.*271_*273del (DERL3)	NP_001129223.1:n.*271_*273del
NM_001317946.2:c.*377_*379del (SMARCB1)	NP_001304875.1:n.*377_*379del
NM_001362877.2:c.*377_*379del (SMARCB1)	NP_001349806.1:n.*377_*379del
NM_001363072.2:c.*336_*338del (DERL3)	NP_001350001.1:n.*336_*338del
NM_003073.5:c.*377_*379del (SMARCB1) MANE Select	NP_003064.2:n.*377_*379del
NM_198440.4:c.*2504_*2506del (DERL3)	NP_940842.2:n.*2504_*2506del