Canonical Allele Identifier: CA032285

Gene: RB1

Linked Data

• dbSNP Id: rs778587838
• ExAC: 13:49027093 AC / A
• gnomAD v2: 13-49027093-AC-A
• gnomAD v4: 13-48452957-AC-A
• MyVariant Identifiers: chr13:g.49027094del (hg19) ; chr13:g.48452958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452958del , CM000675.2:g.48452958del	GRCh38
NC_000013.10:g.49027094del , CM000675.1:g.49027094del	GRCh37
NC_000013.9:g.47925095del	NCBI36
NG_009009.1:g.154212del , LRG_517:g.154212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-35del MANE Select	ENSP00000267163.4:n.1696-35del
ENST00000643064.1:c.194+71515del
ENST00000650461.1:c.1696-35del	ENSP00000497193.1:n.1696-35del
ENST00000267163.4:c.1696-35del	ENSP00000267163.4:n.1696-35del
ENST00000480491.1:n.395-35del
NM_000321.2:c.1696-35del , LRG_517t1:c.1696-35del	NP_000312.2:n.1696-35del
XM_011535171.1:c.1435-35del	XP_011533473.1:n.1435-35del
XM_011535171.2:c.1435-35del	XP_011533473.1:n.1435-35del
NM_000321.3:c.1696-35del MANE Select	NP_000312.2:n.1696-35del