Canonical Allele Identifier: CA609572925

Gene: RB1

Linked Data

• dbSNP Id: rs3092860
• gnomAD v2: 13-48923061-GT-G
• gnomAD v3: 13-48348925-GT-G
• gnomAD v4: 13-48348925-GT-G
• MyVariant Identifiers: chr13:g.48923062del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348933del , CM000675.2:g.48348933del	GRCh38
NC_000013.10:g.48923069del , CM000675.1:g.48923069del	GRCh37
NC_000013.9:g.47821070del	NCBI36
NG_009009.1:g.50187del , LRG_517:g.50187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-23del MANE Select	ENSP00000267163.4:n.540-23del
ENST00000650461.1:c.540-23del	ENSP00000497193.1:n.540-23del
ENST00000267163.4:c.540-23del	ENSP00000267163.4:n.540-23del
ENST00000467505.5:c.138-11084del	ENSP00000434702.1:n.138-11084del
ENST00000525036.1:n.702-23del
NM_000321.2:c.540-23del , LRG_517t1:c.540-23del	NP_000312.2:n.540-23del
XM_011535171.1:c.279-23del	XP_011533473.1:n.279-23del
XM_011535171.2:c.279-23del	XP_011533473.1:n.279-23del
NM_000321.3:c.540-23del MANE Select	NP_000312.2:n.540-23del