Canonical Allele Identifier: CA038818

Gene: RB1

Linked Data

• dbSNP Id: rs772091488
• ExAC: 13:48923115 C / CCCACAGAATAGT
• gnomAD v2: 13-48923115-C-CCCACAGAATAGT
• MyVariant Identifiers: chr13:g.48923115_48923116insCCACAGAATAGT (hg19) ; chr13:g.48348979_48348980insCCACAGAATAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348979_48348980insCCACAGAATAGT , CM000675.2:g.48348979_48348980insCCACAGAATAGT	GRCh38
NC_000013.10:g.48923115_48923116insCCACAGAATAGT , CM000675.1:g.48923115_48923116insCCACAGAATAGT	GRCh37
NC_000013.9:g.47821116_47821117insCCACAGAATAGT	NCBI36
NG_009009.1:g.50233_50234insCCACAGAATAGT , LRG_517:g.50233_50234insCCACAGAATAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.563_564insCCACAGAATAGT MANE Select	ENSP00000267163.4:p.Ala188_Leu189insHisArgIleVal
ENST00000650461.1:c.563_564insCCACAGAATAGT	ENSP00000497193.1:p.Ala188_Leu189insHisArgIleVal
ENST00000267163.4:c.563_564insCCACAGAATAGT	ENSP00000267163.4:p.Ala188_Leu189insHisArgIleVal
ENST00000467505.5:c.138-11038_138-11037insCCACAGAATAGT	ENSP00000434702.1:n.138-11038_138-11037insCCACAGAATAGT
ENST00000525036.1:n.725_726insCCACAGAATAGT
NM_000321.2:c.563_564insCCACAGAATAGT , LRG_517t1:c.563_564insCCACAGAATAGT	NP_000312.2:p.Ala188_Leu189insHisArgIleVal
XM_011535171.1:c.302_303insCCACAGAATAGT	XP_011533473.1:p.Ala101_Leu102insHisArgIleVal
XM_011535171.2:c.302_303insCCACAGAATAGT	XP_011533473.1:p.Ala101_Leu102insHisArgIleVal
NM_000321.3:c.563_564insCCACAGAATAGT MANE Select	NP_000312.2:p.Ala188_Leu189insHisArgIleVal