Canonical Allele Identifier: CA2695218478

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380228_48380237del , CM000675.2:g.48380228_48380237del	GRCh38
NC_000013.10:g.48954364_48954373del , CM000675.1:g.48954364_48954373del	GRCh37
NC_000013.9:g.47852365_47852374del	NCBI36
NG_009009.1:g.81482_81491del , LRG_517:g.81482_81491del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1485_1494del MANE Select	ENSP00000267163.4:p.Met495IlefsTer21
ENST00000650461.1:c.1485_1494del	ENSP00000497193.1:p.Met495IlefsTer21
ENST00000267163.4:c.1485_1494del	ENSP00000267163.4:p.Met495IlefsTer21
NM_000321.2:c.1485_1494del , LRG_517t1:c.1485_1494del	NP_000312.2:p.Met495IlefsTer21
XM_011535171.1:c.1224_1233del	XP_011533473.1:p.Met408IlefsTer21
XM_011535171.2:c.1224_1233del	XP_011533473.1:p.Met408IlefsTer21
NM_000321.3:c.1485_1494del MANE Select	NP_000312.2:p.Met495IlefsTer21