Canonical Allele Identifier: CA249269440

Gene: RB1

Linked Data

• dbSNP Id: rs1018431698
• gnomAD v3: 13-48349121-AC-A
• gnomAD v4: 13-48349121-AC-A
• MyVariant Identifiers: chr13:g.48923258del (hg19) ; chr13:g.48349122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349122del , CM000675.2:g.48349122del	GRCh38
NC_000013.10:g.48923258del , CM000675.1:g.48923258del	GRCh37
NC_000013.9:g.47821259del	NCBI36
NG_009009.1:g.50376del , LRG_517:g.50376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.607+99del MANE Select	ENSP00000267163.4:n.607+99del
ENST00000650461.1:c.607+99del	ENSP00000497193.1:n.607+99del
ENST00000267163.4:c.607+99del	ENSP00000267163.4:n.607+99del
ENST00000467505.5:c.138-10895del	ENSP00000434702.1:n.138-10895del
ENST00000525036.1:n.769+99del
NM_000321.2:c.607+99del , LRG_517t1:c.607+99del	NP_000312.2:n.607+99del
XM_011535171.1:c.346+99del	XP_011533473.1:n.346+99del
XM_011535171.2:c.346+99del	XP_011533473.1:n.346+99del
NM_000321.3:c.607+99del MANE Select	NP_000312.2:n.607+99del