Canonical Allele Identifier: CA2695218409

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364939_48364940del , CM000675.2:g.48364939_48364940del	GRCh38
NC_000013.10:g.48939075_48939076del , CM000675.1:g.48939075_48939076del	GRCh37
NC_000013.9:g.47837076_47837077del	NCBI36
NG_009009.1:g.66193_66194del , LRG_517:g.66193_66194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.907_908del MANE Select	ENSP00000267163.4:p.Leu303TrpfsTer6
ENST00000650461.1:c.907_908del	ENSP00000497193.1:p.Leu303TrpfsTer6
ENST00000267163.4:c.907_908del	ENSP00000267163.4:p.Leu303TrpfsTer6
NM_000321.2:c.907_908del , LRG_517t1:c.907_908del	NP_000312.2:p.Leu303TrpfsTer6
XM_011535171.1:c.646_647del	XP_011533473.1:p.Leu216TrpfsTer6
XM_011535171.2:c.646_647del	XP_011533473.1:p.Leu216TrpfsTer6
XR_002957522.1:n.161_162del
NM_000321.3:c.907_908del MANE Select	NP_000312.2:p.Leu303TrpfsTer6