Canonical Allele Identifier: CA2651630526

Gene: SNRPB

Linked Data

• gnomAD v4: 20-2470781-C-CCGCGAGTTTCTTTTTTTTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470781_2470782insCGCGAGTTTCTTTTTTTTTGTT , CM000682.2:g.2470781_2470782insCGCGAGTTTCTTTTTTTTTGTT	GRCh38
NC_000020.10:g.2451427_2451428insCGCGAGTTTCTTTTTTTTTGTT , CM000682.1:g.2451427_2451428insCGCGAGTTTCTTTTTTTTTGTT	GRCh37
NC_000020.9:g.2399427_2399428insCGCGAGTTTCTTTTTTTTTGTT	NCBI36
NG_042057.1:g.5072_5073insAACAAAAAAAAAGAAACTCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688423.1:n.6_7insAACAAAAAAAAAGAAACTCGCG
ENST00000688775.1:n.6_7insAACAAAAAAAAAGAAACTCGCG
ENST00000689440.1:n.8_9insAACAAAAAAAAAGAAACTCGCG
ENST00000693393.1:n.8_9insAACAAAAAAAAAGAAACTCGCG
ENST00000381342.7:c.-92_-91insAACAAAAAAAAAGAAACTCGCG MANE Select	ENSP00000370746.3:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
ENST00000339610.10:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	ENSP00000342305.7:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
ENST00000381342.6:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	ENSP00000370746.2:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
ENST00000438552.6:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	ENSP00000412566.2:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
ENST00000461548.1:c.305-3024_305-3023insAACAAAAAAAAAGAAACTCGCG	ENSP00000456213.1:n.305-3024_305-3023insAACAAAAAAAAAGAAACTCGC...
NM_003091.3:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	NP_003082.1:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
NM_198216.1:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	NP_937859.1:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
NM_003091.4:c.-92_-91insAACAAAAAAAAAGAAACTCGCG MANE Select	NP_003082.1:n.-92_-91insAACAAAAAAAAAGAAACTCGCG
NM_198216.2:c.-92_-91insAACAAAAAAAAAGAAACTCGCG	NP_937859.1:n.-92_-91insAACAAAAAAAAAGAAACTCGCG