Canonical Allele Identifier: CA2573149609

Gene: RB1

Linked Data

• ClinVar Variation Id: 1389096
• ClinVar RCV Id: RCV001886991
• dbSNP Id: rs2138142421

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380096_48380199del , CM000675.2:g.48380096_48380199del	GRCh38
NC_000013.10:g.48954232_48954335del , CM000675.1:g.48954232_48954335del	GRCh37
NC_000013.9:g.47852233_47852336del	NCBI36
NG_009009.1:g.81350_81453del , LRG_517:g.81350_81453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1421+12_1456del
ENST00000650461.1:c.1421+12_1456del
ENST00000267163.4:c.1421+12_1456del
NM_000321.2:c.1421+12_1456del , LRG_517t1:c.1421+12_1456del
XM_011535171.1:c.1160+12_1195del
XM_011535171.2:c.1160+12_1195del
NM_000321.3:c.1421+12_1456del