Canonical Allele Identifier: CA2695218634

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459748del , CM000675.2:g.48459748del	GRCh38
NC_000013.10:g.49033884del , CM000675.1:g.49033884del	GRCh37
NC_000013.9:g.47931885del	NCBI36
NG_009009.1:g.161002del , LRG_517:g.161002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2021del MANE Select	ENSP00000267163.4:p.Pro674GlnfsTer3
ENST00000643064.1:c.194+78305del
ENST00000650461.1:c.2021del	ENSP00000497193.1:p.Pro674GlnfsTer3
ENST00000267163.4:c.2021del	ENSP00000267163.4:p.Pro674GlnfsTer3
NM_000321.2:c.2021del , LRG_517t1:c.2021del	NP_000312.2:p.Pro674GlnfsTer3
XM_011535171.1:c.1760del	XP_011533473.1:p.Pro587GlnfsTer3
XM_011535171.2:c.1760del	XP_011533473.1:p.Pro587GlnfsTer3
NM_000321.3:c.2021del MANE Select	NP_000312.2:p.Pro674GlnfsTer3