Canonical Allele Identifier: CA2651630468

Gene: SNRPB

Linked Data

• gnomAD v4: 20-2470746-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470752_2470753del , CM000682.2:g.2470752_2470753del	GRCh38
NC_000020.10:g.2451398_2451399del , CM000682.1:g.2451398_2451399del	GRCh37
NC_000020.9:g.2399398_2399399del	NCBI36
NG_042057.1:g.5106_5107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.40_41del
ENST00000688775.1:n.40_41del
ENST00000689440.1:n.42_43del
ENST00000693393.1:n.42_43del
ENST00000381342.7:c.-58_-57del MANE Select	ENSP00000370746.3:n.-58_-57del
ENST00000339610.10:c.-58_-57del	ENSP00000342305.7:n.-58_-57del
ENST00000381342.6:c.-58_-57del	ENSP00000370746.2:n.-58_-57del
ENST00000438552.6:c.-58_-57del	ENSP00000412566.2:n.-58_-57del
ENST00000461548.1:c.305-2990_305-2989del	ENSP00000456213.1:n.305-2990_305-2989del
NM_003091.3:c.-58_-57del	NP_003082.1:n.-58_-57del
NM_198216.1:c.-58_-57del	NP_937859.1:n.-58_-57del
NM_003091.4:c.-58_-57del MANE Select	NP_003082.1:n.-58_-57del
NM_198216.2:c.-58_-57del	NP_937859.1:n.-58_-57del