Canonical Allele Identifier: CA2346122546
Gene: SNRPB HGNC NCBI

Linked Data

dbSNP Id: rs2085108234

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470680del , CM000682.2:g.2470680del GRCh38
NC_000020.10:g.2451326del , CM000682.1:g.2451326del GRCh37
NC_000020.9:g.2399326del NCBI36
NG_042057.1:g.5176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000688423.1:n.100+10del
ENST00000688775.1:n.100+10del
ENST00000689440.1:n.102+10del
ENST00000690623.1:n.52+10del
ENST00000693393.1:n.102+10del
ENST00000381342.7:c.3+10del MANE Select ENSP00000370746.3:n.3+10del
ENST00000339610.10:c.3+10del ENSP00000342305.7:n.3+10del
ENST00000381342.6:c.3+10del ENSP00000370746.2:n.3+10del
ENST00000438552.6:c.3+10del ENSP00000412566.2:n.3+10del
ENST00000461548.1:c.305-2920del ENSP00000456213.1:n.305-2920del
ENST00000474384.2:c.3+10del ENSP00000474579.1:n.3+10del
NM_003091.3:c.3+10del NP_003082.1:n.3+10del
NM_198216.1:c.3+10del NP_937859.1:n.3+10del
NM_003091.4:c.3+10del MANE Select NP_003082.1:n.3+10del
NM_198216.2:c.3+10del NP_937859.1:n.3+10del