Canonical Allele Identifier: CA249269297

Gene: RB1

Linked Data

• dbSNP Id: rs869255424
• MyVariant Identifiers: chr13:g.48922995_48922996insT (hg19) ; chr13:g.48348859_48348860insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348859_48348860insT , CM000675.2:g.48348859_48348860insT	GRCh38
NC_000013.10:g.48922995_48922996insT , CM000675.1:g.48922995_48922996insT	GRCh37
NC_000013.9:g.47820996_47820997insT	NCBI36
NG_009009.1:g.50113_50114insT , LRG_517:g.50113_50114insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-97_540-96insT MANE Select	ENSP00000267163.4:n.540-97_540-96insT
ENST00000650461.1:c.540-97_540-96insT	ENSP00000497193.1:n.540-97_540-96insT
ENST00000267163.4:c.540-97_540-96insT	ENSP00000267163.4:n.540-97_540-96insT
ENST00000467505.5:c.138-11158_138-11157insT	ENSP00000434702.1:n.138-11158_138-11157insT
ENST00000525036.1:n.702-97_702-96insT
NM_000321.2:c.540-97_540-96insT , LRG_517t1:c.540-97_540-96insT	NP_000312.2:n.540-97_540-96insT
XM_011535171.1:c.279-97_279-96insT	XP_011533473.1:n.279-97_279-96insT
XM_011535171.2:c.279-97_279-96insT	XP_011533473.1:n.279-97_279-96insT
NM_000321.3:c.540-97_540-96insT MANE Select	NP_000312.2:n.540-97_540-96insT