Canonical Allele Identifier: CA2697551907

Gene: RB1

Linked Data

• ClinVar Variation Id: 2743773
• ClinVar RCV Id: RCV003516622

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459786_48459793dup , CM000675.2:g.48459786_48459793dup	GRCh38
NC_000013.10:g.49033922_49033929dup , CM000675.1:g.49033922_49033929dup	GRCh37
NC_000013.9:g.47931923_47931930dup	NCBI36
NG_009009.1:g.161040_161047dup , LRG_517:g.161040_161047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2059_2066dup MANE Select	ENSP00000267163.4:p.Asn690ProfsTer9
ENST00000643064.1:c.194+78343_194+78350dup
ENST00000650461.1:c.2059_2066dup	ENSP00000497193.1:p.Asn690ProfsTer9
ENST00000267163.4:c.2059_2066dup	ENSP00000267163.4:p.Asn690ProfsTer9
NM_000321.2:c.2059_2066dup , LRG_517t1:c.2059_2066dup	NP_000312.2:p.Asn690ProfsTer9
XM_011535171.1:c.1798_1805dup	XP_011533473.1:p.Asn603ProfsTer9
XM_011535171.2:c.1798_1805dup	XP_011533473.1:p.Asn603ProfsTer9
NM_000321.3:c.2059_2066dup MANE Select	NP_000312.2:p.Asn690ProfsTer9