Canonical Allele Identifier: CA916081694

Gene: RB1

Linked Data

• ClinVar Variation Id: 860929
• ClinVar RCV Id: RCV001067330
• dbSNP Id: rs1948533760

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381315_48381316dup , CM000675.2:g.48381315_48381316dup	GRCh38
NC_000013.10:g.48955451_48955452dup , CM000675.1:g.48955451_48955452dup	GRCh37
NC_000013.9:g.47853452_47853453dup	NCBI36
NG_009009.1:g.82569_82570dup , LRG_517:g.82569_82570dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1567_1568dup MANE Select	ENSP00000267163.4:p.Leu523PhefsTer2
ENST00000643064.1:c.66_67dup
ENST00000650461.1:c.1567_1568dup	ENSP00000497193.1:p.Leu523PhefsTer2
ENST00000267163.4:c.1567_1568dup	ENSP00000267163.4:p.Leu523PhefsTer2
NM_000321.2:c.1567_1568dup , LRG_517t1:c.1567_1568dup	NP_000312.2:p.Leu523PhefsTer2
XM_011535171.1:c.1306_1307dup	XP_011533473.1:p.Leu436PhefsTer2
XM_011535171.2:c.1306_1307dup	XP_011533473.1:p.Leu436PhefsTer2
NM_000321.3:c.1567_1568dup MANE Select	NP_000312.2:p.Leu523PhefsTer2