Canonical Allele Identifier: CA698660163

Gene: RB1

Linked Data

• dbSNP Id: rs1175301549
• MyVariant Identifiers: chr13:g.48923073del (hg19) ; chr13:g.48348937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348937del , CM000675.2:g.48348937del	GRCh38
NC_000013.10:g.48923073del , CM000675.1:g.48923073del	GRCh37
NC_000013.9:g.47821074del	NCBI36
NG_009009.1:g.50191del , LRG_517:g.50191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-19del MANE Select	ENSP00000267163.4:n.540-19del
ENST00000650461.1:c.540-19del	ENSP00000497193.1:n.540-19del
ENST00000267163.4:c.540-19del	ENSP00000267163.4:n.540-19del
ENST00000467505.5:c.138-11080del	ENSP00000434702.1:n.138-11080del
ENST00000525036.1:n.702-19del
NM_000321.2:c.540-19del , LRG_517t1:c.540-19del	NP_000312.2:n.540-19del
XM_011535171.1:c.279-19del	XP_011533473.1:n.279-19del
XM_011535171.2:c.279-19del	XP_011533473.1:n.279-19del
NM_000321.3:c.540-19del MANE Select	NP_000312.2:n.540-19del