Canonical Allele Identifier: CA915948548

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48307317_48307319delinsCCT , CM000675.2:g.48307317_48307319delinsCCT	GRCh38
NC_000013.10:g.48881453_48881455delinsCCT , CM000675.1:g.48881453_48881455delinsCCT	GRCh37
NC_000013.9:g.47779454_47779456delinsCCT	NCBI36
NG_009009.1:g.8571_8573delinsCCT , LRG_517:g.8571_8573delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.175_177delinsCCT MANE Select	NP_000312.2:p.Ala59Pro
ENST00000267163.6:c.175_177delinsCCT MANE Select	ENSP00000267163.4:p.Ala59Pro
NM_000321.2:c.175_177delinsCCT , LRG_517t1:c.175_177delinsCCT	NP_000312.2:p.Ala59Pro
ENST00000267163.4:c.175_177delinsCCT	ENSP00000267163.4:p.Ala59Pro
ENST00000467505.5:c.137+3268_137+3270delinsCCT	ENSP00000434702.1:n.137+3268_137+3270delinsCCT
ENST00000525036.1:n.337_339delinsCCT
ENST00000646097.1:c.175_177delinsCCT	ENSP00000496556.1:p.Ala59Pro
ENST00000650461.1:c.175_177delinsCCT	ENSP00000497193.1:p.Ala59Pro