Canonical Allele Identifier: CA9732440
Community Standard Title: NM_003091.4(SNRPB):c.421-19_421-16del
Gene: SNRPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2463247_2463250del , CM000682.2:g.2463247_2463250del GRCh38
NC_000020.10:g.2443893_2443896del , CM000682.1:g.2443893_2443896del GRCh37
NC_000020.9:g.2391893_2391896del NCBI36
NG_042057.1:g.12608_12611del

Transcript Alleles

HGVS Amino-acid Change
NM_003091.4:c.421-19_421-16del MANE Select NP_003082.1:n.421-19_421-16del
ENST00000381342.7:c.421-19_421-16del MANE Select ENSP00000370746.3:n.421-19_421-16del
NM_003091.3:c.421-19_421-16del NP_003082.1:n.421-19_421-16del
NM_198216.1:c.421-19_421-16del NP_937859.1:n.421-19_421-16del
NM_198216.2:c.421-19_421-16del NP_937859.1:n.421-19_421-16del
ENST00000339610.10:c.421-19_421-16del ENSP00000342305.7:n.421-19_421-16del
ENST00000381342.6:c.421-19_421-16del ENSP00000370746.2:n.421-19_421-16del
ENST00000438552.6:c.421-19_421-16del ENSP00000412566.2:n.421-19_421-16del
ENST00000474384.2:c.*332-19_*332-16del ENSP00000474579.1:n.*332-19_*332-16del
ENST00000688423.1:n.2805_2808del
ENST00000688450.1:n.1482_1485del
ENST00000688775.1:n.2305-19_2305-16del
ENST00000689440.1:n.2016-19_2016-16del
ENST00000689611.1:n.1651_1654del
ENST00000690623.1:n.594-19_594-16del
ENST00000693393.1:n.2307-19_2307-16del