Canonical Allele Identifier: CA2655697923

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23786945-GGCGCGCGCGTCAGCGTCAACGCCAGCGCCTGCGCACTGAGGGCGGCCTGGTCGTCGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23786949_23787007del , CM000684.2:g.23786949_23787007del	GRCh38
NC_000022.10:g.24129136_24129194del , CM000684.1:g.24129136_24129194del	GRCh37
NC_000022.9:g.22459136_22459194del	NCBI36
NG_009303.1:g.4987_5045del , LRG_520:g.4987_5045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000407422.8:c.-221_-163del	ENSP00000383984.3:n.-221_-163del
NM_001007468.2:c.-221_-163del	NP_001007469.1:n.-221_-163del
NM_001317946.1:c.-221_-163del	NP_001304875.1:n.-221_-163del
NM_001362877.1:c.-221_-163del	NP_001349806.1:n.-221_-163del
NM_003073.4:c.-221_-163del	NP_003064.2:n.-221_-163del