Canonical Allele Identifier: CA698659942

Gene: RB1

Linked Data

• dbSNP Id: rs1288335330
• MyVariant Identifiers: chr13:g.48922761_48922764del (hg19) ; chr13:g.48348625_48348628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348626_48348629del , CM000675.2:g.48348626_48348629del	GRCh38
NC_000013.10:g.48922762_48922765del , CM000675.1:g.48922762_48922765del	GRCh37
NC_000013.9:g.47820763_47820766del	NCBI36
NG_009009.1:g.49880_49883del , LRG_517:g.49880_49883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-330_540-327del MANE Select	ENSP00000267163.4:n.540-330_540-327del
ENST00000650461.1:c.540-330_540-327del	ENSP00000497193.1:n.540-330_540-327del
ENST00000267163.4:c.540-330_540-327del	ENSP00000267163.4:n.540-330_540-327del
ENST00000467505.5:c.138-11391_138-11388del	ENSP00000434702.1:n.138-11391_138-11388del
ENST00000525036.1:n.702-330_702-327del
NM_000321.2:c.540-330_540-327del , LRG_517t1:c.540-330_540-327del	NP_000312.2:n.540-330_540-327del
XM_011535171.1:c.279-330_279-327del	XP_011533473.1:n.279-330_279-327del
XM_011535171.2:c.279-330_279-327del	XP_011533473.1:n.279-330_279-327del
NM_000321.3:c.540-330_540-327del MANE Select	NP_000312.2:n.540-330_540-327del