Canonical Allele Identifier: CA2695218653

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459782_48459783del , CM000675.2:g.48459782_48459783del	GRCh38
NC_000013.10:g.49033918_49033919del , CM000675.1:g.49033918_49033919del	GRCh37
NC_000013.9:g.47931919_47931920del	NCBI36
NG_009009.1:g.161036_161037del , LRG_517:g.161036_161037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2055_2056del MANE Select	ENSP00000267163.4:p.Thr687ProfsTer4
ENST00000643064.1:c.194+78339_194+78340del
ENST00000650461.1:c.2055_2056del	ENSP00000497193.1:p.Thr687ProfsTer4
ENST00000267163.4:c.2055_2056del	ENSP00000267163.4:p.Thr687ProfsTer4
NM_000321.2:c.2055_2056del , LRG_517t1:c.2055_2056del	NP_000312.2:p.Thr687ProfsTer4
XM_011535171.1:c.1794_1795del	XP_011533473.1:p.Thr600ProfsTer4
XM_011535171.2:c.1794_1795del	XP_011533473.1:p.Thr600ProfsTer4
NM_000321.3:c.2055_2056del MANE Select	NP_000312.2:p.Thr687ProfsTer4