Canonical Allele Identifier: CA483559199

Gene: RB1

Linked Data

• dbSNP Id: rs2138344217
• gnomAD v3: 13-48464952-A-AT
• gnomAD v4: 13-48464952-A-AT
• MyVariant Identifiers: chr13:g.49039088_49039089insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48464956dup , CM000675.2:g.48464956dup	GRCh38
NC_000013.10:g.49039092dup , CM000675.1:g.49039092dup	GRCh37
NC_000013.9:g.47937093dup	NCBI36
NG_009009.1:g.166210dup , LRG_517:g.166210dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.2212-42dup MANE Select	ENSP00000267163.4:n.2212-42dup
ENST00000643064.1:c.194+83513dup
ENST00000650461.1:c.2212-42dup	ENSP00000497193.1:n.2212-42dup
ENST00000267163.4:c.2212-42dup	ENSP00000267163.4:n.2212-42dup
NM_000321.2:c.2212-42dup , LRG_517t1:c.2212-42dup	NP_000312.2:n.2212-42dup
XM_011535171.1:c.1951-42dup	XP_011533473.1:n.1951-42dup
XM_011535171.2:c.1951-42dup	XP_011533473.1:n.1951-42dup
NM_000321.3:c.2212-42dup MANE Select	NP_000312.2:n.2212-42dup