Canonical Allele Identifier: CA2575413510

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380226del , CM000675.2:g.48380226del	GRCh38
NC_000013.10:g.48954362del , CM000675.1:g.48954362del	GRCh37
NC_000013.9:g.47852363del	NCBI36
NG_009009.1:g.81480del , LRG_517:g.81480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1483del MANE Select	ENSP00000267163.4:p.Met495TrpfsTer24
ENST00000650461.1:c.1483del	ENSP00000497193.1:p.Met495TrpfsTer24
ENST00000267163.4:c.1483del	ENSP00000267163.4:p.Met495TrpfsTer24
NM_000321.2:c.1483del , LRG_517t1:c.1483del	NP_000312.2:p.Met495TrpfsTer24
XM_011535171.1:c.1222del	XP_011533473.1:p.Met408TrpfsTer24
XM_011535171.2:c.1222del	XP_011533473.1:p.Met408TrpfsTer24
NM_000321.3:c.1483del MANE Select	NP_000312.2:p.Met495TrpfsTer24