Canonical Allele Identifier: CA915948565

Gene: RB1

Linked Data

• ClinVar Variation Id: 652191
• ClinVar RCV Id: RCV000807700
• dbSNP Id: rs1593534586

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459705_48459723del , CM000675.2:g.48459705_48459723del	GRCh38
NC_000013.10:g.49033841_49033859del , CM000675.1:g.49033841_49033859del	GRCh37
NC_000013.9:g.47931842_47931860del	NCBI36
NG_009009.1:g.160959_160977del , LRG_517:g.160959_160977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1978_1996del MANE Select	ENSP00000267163.4:p.Leu660ValfsTer11
ENST00000643064.1:c.194+78262_194+78280del
ENST00000650461.1:c.1978_1996del	ENSP00000497193.1:p.Leu660ValfsTer11
ENST00000267163.4:c.1978_1996del	ENSP00000267163.4:p.Leu660ValfsTer11
NM_000321.2:c.1978_1996del , LRG_517t1:c.1978_1996del	NP_000312.2:p.Leu660ValfsTer11
XM_011535171.1:c.1717_1735del	XP_011533473.1:p.Leu573ValfsTer11
XM_011535171.2:c.1717_1735del	XP_011533473.1:p.Leu573ValfsTer11
NM_000321.3:c.1978_1996del MANE Select	NP_000312.2:p.Leu660ValfsTer11