Canonical Allele Identifier: CA638698893

Gene: SMARCB1

Linked Data

• gnomAD v2: 22-24135990-TGGAA-T
• gnomAD v3: 22-23793803-TGGAA-T
• gnomAD v4: 22-23793803-TGGAA-T
• MyVariant Identifiers: chr22:g.24135991_24135996delinsTC (hg19) ; chr22:g.23793804_23793809delinsTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793804_23793807del , CM000684.2:g.23793804_23793807del	GRCh38
NC_000022.10:g.24135991_24135994del , CM000684.1:g.24135991_24135994del	GRCh37
NC_000022.9:g.22465991_22465994del	NCBI36
NG_009303.1:g.11842_11845del , LRG_520:g.11842_11845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.362+116_362+119del	ENSP00000263121.8:n.362+116_362+119del
ENST00000344921.11:c.335+116_335+119del	ENSP00000340883.6:n.335+116_335+119del
ENST00000407082.4:c.335+116_335+119del	ENSP00000385226.4:n.335+116_335+119del
ENST00000407422.8:c.335+116_335+119del	ENSP00000383984.3:n.335+116_335+119del
ENST00000417137.6:c.362+116_362+119del	ENSP00000388489.2:n.362+116_362+119del
ENST00000491967.2:n.525+116_525+119del
ENST00000643421.1:n.330+116_330+119del
ENST00000644036.2:c.362+116_362+119del MANE Select	ENSP00000494049.2:n.362+116_362+119del
ENST00000644462.1:c.197+116_197+119del	ENSP00000494283.1:n.197+116_197+119del
ENST00000644619.1:c.362+116_362+119del	ENSP00000494695.1:n.362+116_362+119del
ENST00000646421.1:n.2218+116_2218+119del
ENST00000646723.1:n.350+116_350+119del
ENST00000646911.1:n.274+116_274+119del
ENST00000647057.1:c.93+6542_93+6545del	ENSP00000494757.1:n.93+6542_93+6545del
ENST00000263121.11:c.362+116_362+119del	ENSP00000263121.7:n.362+116_362+119del
ENST00000344921.10:c.335+116_335+119del	ENSP00000340883.6:n.335+116_335+119del
ENST00000407082.3:c.362+116_362+119del	ENSP00000385226.3:n.362+116_362+119del
ENST00000407422.7:c.335+116_335+119del	ENSP00000383984.3:n.335+116_335+119del
ENST00000417137.5:c.362+116_362+119del	ENSP00000388489.1:n.362+116_362+119del
ENST00000491967.1:n.88+116_88+119del
ENST00000634926.1:c.214+116_214+119del
ENST00000635578.1:c.187+116_187+119del
NM_001007468.1:c.335+116_335+119del	NP_001007469.1:n.335+116_335+119del
NM_003073.3:c.362+116_362+119del , LRG_520t1:c.362+116_362+119del	NP_003064.2:n.362+116_362+119del
XM_011530345.1:c.362+116_362+119del	XP_011528647.1:n.362+116_362+119del
XM_011530346.1:c.335+116_335+119del	XP_011528648.1:n.335+116_335+119del
NM_001007468.2:c.335+116_335+119del	NP_001007469.1:n.335+116_335+119del
NM_001317946.1:c.335+116_335+119del	NP_001304875.1:n.335+116_335+119del
NM_001362877.1:c.362+116_362+119del	NP_001349806.1:n.362+116_362+119del
NM_003073.4:c.362+116_362+119del	NP_003064.2:n.362+116_362+119del
NM_001007468.3:c.335+116_335+119del	NP_001007469.1:n.335+116_335+119del
NM_001317946.2:c.335+116_335+119del	NP_001304875.1:n.335+116_335+119del
NM_001362877.2:c.362+116_362+119del	NP_001349806.1:n.362+116_362+119del
NM_003073.5:c.362+116_362+119del MANE Select	NP_003064.2:n.362+116_362+119del