Canonical Allele Identifier: CA2695218599

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476764del , CM000675.2:g.48476764del	GRCh38
NC_000013.10:g.49050900del , CM000675.1:g.49050900del	GRCh37
NC_000013.9:g.47948901del	NCBI36
NG_009009.1:g.178018del , LRG_517:g.178018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2584del MANE Select	ENSP00000267163.4:p.Ser862ValfsTer11
ENST00000643064.1:c.194+95321del
ENST00000650461.1:c.2584del	ENSP00000497193.1:p.Ser862ValfsTer11
ENST00000267163.4:c.2584del	ENSP00000267163.4:p.Ser862ValfsTer11
ENST00000484879.1:n.318del
ENST00000531171.5:n.187del
NM_000321.2:c.2584del , LRG_517t1:c.2584del	NP_000312.2:p.Ser862ValfsTer11
XM_011535171.1:c.2323del	XP_011533473.1:p.Ser775ValfsTer11
XM_011535171.2:c.2323del	XP_011533473.1:p.Ser775ValfsTer11
NM_000321.3:c.2584del MANE Select	NP_000312.2:p.Ser862ValfsTer11