Canonical Allele Identifier: CA036110

Gene: RB1

Linked Data

• dbSNP Id: rs779680713
• ExAC: 13:49050809 TTAAAG / T
• gnomAD v2: 13-49050809-TTAAAG-T
• gnomAD v4: 13-48476673-TTAAAG-T
• MyVariant Identifiers: chr13:g.49050810_49050814del (hg19) ; chr13:g.48476674_48476678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476679_48476683del , CM000675.2:g.48476679_48476683del	GRCh38
NC_000013.10:g.49050815_49050819del , CM000675.1:g.49050815_49050819del	GRCh37
NC_000013.9:g.47948816_47948820del	NCBI36
NG_009009.1:g.177933_177937del , LRG_517:g.177933_177937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-22_2521-18del MANE Select	ENSP00000267163.4:n.2521-22_2521-18del
ENST00000643064.1:c.194+95236_194+95240del
ENST00000650461.1:c.2521-22_2521-18del	ENSP00000497193.1:n.2521-22_2521-18del
ENST00000267163.4:c.2521-22_2521-18del	ENSP00000267163.4:n.2521-22_2521-18del
ENST00000484879.1:n.233_237del
ENST00000531171.5:n.124-22_124-18del
NM_000321.2:c.2521-22_2521-18del , LRG_517t1:c.2521-22_2521-18del	NP_000312.2:n.2521-22_2521-18del
XM_011535171.1:c.2260-22_2260-18del	XP_011533473.1:n.2260-22_2260-18del
XM_011535171.2:c.2260-22_2260-18del	XP_011533473.1:n.2260-22_2260-18del
NM_000321.3:c.2521-22_2521-18del MANE Select	NP_000312.2:n.2521-22_2521-18del