Canonical Allele Identifier: CA698682033

Gene: RB1

Linked Data

• dbSNP Id: rs1370050490
• gnomAD v3: 13-48459416-G-GTTC
• gnomAD v4: 13-48459416-G-GTTC
• MyVariant Identifiers: chr13:g.49033552_49033553insTTC (hg19) ; chr13:g.48459416_48459417insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459416_48459417insTTC , CM000675.2:g.48459416_48459417insTTC	GRCh38
NC_000013.10:g.49033552_49033553insTTC , CM000675.1:g.49033552_49033553insTTC	GRCh37
NC_000013.9:g.47931553_47931554insTTC	NCBI36
NG_009009.1:g.160670_160671insTTC , LRG_517:g.160670_160671insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1961-272_1961-271insTTC MANE Select	ENSP00000267163.4:n.1961-272_1961-271insTTC
ENST00000643064.1:c.194+77973_194+77974insTTC
ENST00000650461.1:c.1961-272_1961-271insTTC	ENSP00000497193.1:n.1961-272_1961-271insTTC
ENST00000267163.4:c.1961-272_1961-271insTTC	ENSP00000267163.4:n.1961-272_1961-271insTTC
NM_000321.2:c.1961-272_1961-271insTTC , LRG_517t1:c.1961-272_1961-271insTTC	NP_000312.2:n.1961-272_1961-271insTTC
XM_011535171.1:c.1700-272_1700-271insTTC	XP_011533473.1:n.1700-272_1700-271insTTC
XM_011535171.2:c.1700-272_1700-271insTTC	XP_011533473.1:n.1700-272_1700-271insTTC
NM_000321.3:c.1961-272_1961-271insTTC MANE Select	NP_000312.2:n.1961-272_1961-271insTTC