Canonical Allele Identifier: CA658798141

Gene: RB1

Linked Data

• ClinVar Variation Id: 523357
• ClinVar RCV Id: RCV000626660
• dbSNP Id: rs1555283670
• MyVariant Identifiers: chr13:g.48923149_48923153dup (hg19) ; chr13:g.48349013_48349017dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349013_48349017dup , CM000675.2:g.48349013_48349017dup	GRCh38
NC_000013.10:g.48923149_48923153dup , CM000675.1:g.48923149_48923153dup	GRCh37
NC_000013.9:g.47821150_47821154dup	NCBI36
NG_009009.1:g.50267_50271dup , LRG_517:g.50267_50271dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.597_601dup MANE Select	ENSP00000267163.4:p.Ala201AspfsTer2
ENST00000650461.1:c.597_601dup	ENSP00000497193.1:p.Ala201AspfsTer2
ENST00000267163.4:c.597_601dup	ENSP00000267163.4:p.Ala201AspfsTer2
ENST00000467505.5:c.138-11004_138-11000dup	ENSP00000434702.1:n.138-11004_138-11000du...
ENST00000525036.1:n.759_763dup
NM_000321.2:c.597_601dup , LRG_517t1:c.597_601dup	NP_000312.2:p.Ala201AspfsTer2
XM_011535171.1:c.336_340dup	XP_011533473.1:p.Ala114AspfsTer2
XM_011535171.2:c.336_340dup	XP_011533473.1:p.Ala114AspfsTer2
NM_000321.3:c.597_601dup MANE Select	NP_000312.2:p.Ala201AspfsTer2