Canonical Allele Identifier: CA2622981258

Gene: RB1

Linked Data

• gnomAD v4: 13-48380030-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380030_48380031insC , CM000675.2:g.48380030_48380031insC	GRCh38
NC_000013.10:g.48954166_48954167insC , CM000675.1:g.48954166_48954167insC	GRCh37
NC_000013.9:g.47852167_47852168insC	NCBI36
NG_009009.1:g.81284_81285insC , LRG_517:g.81284_81285insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-23_1390-22insC MANE Select	ENSP00000267163.4:n.1390-23_1390-22insC
ENST00000650461.1:c.1390-23_1390-22insC	ENSP00000497193.1:n.1390-23_1390-22insC
ENST00000267163.4:c.1390-23_1390-22insC	ENSP00000267163.4:n.1390-23_1390-22insC
NM_000321.2:c.1390-23_1390-22insC , LRG_517t1:c.1390-23_1390-22insC	NP_000312.2:n.1390-23_1390-22insC
XM_011535171.1:c.1129-23_1129-22insC	XP_011533473.1:n.1129-23_1129-22insC
XM_011535171.2:c.1129-23_1129-22insC	XP_011533473.1:n.1129-23_1129-22insC
NM_000321.3:c.1390-23_1390-22insC MANE Select	NP_000312.2:n.1390-23_1390-22insC