Canonical Allele Identifier: CA609929346

Gene: RB1

Linked Data

• dbSNP Id: rs1593456922
• gnomAD v2: 13-48955375-A-ATTTTT
• gnomAD v3: 13-48381239-A-ATTTTT
• gnomAD v4: 13-48381239-A-ATTTTT
• MyVariant Identifiers: chr13:g.48955375_48955376insTTTTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381240_48381244dup , CM000675.2:g.48381240_48381244dup	GRCh38
NC_000013.10:g.48955376_48955380dup , CM000675.1:g.48955376_48955380dup	GRCh37
NC_000013.9:g.47853377_47853381dup	NCBI36
NG_009009.1:g.82494_82498dup , LRG_517:g.82494_82498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1499-7_1499-3dup MANE Select	ENSP00000267163.4:n.1499-7_1499-3dup
ENST00000650461.1:c.1499-7_1499-3dup	ENSP00000497193.1:n.1499-7_1499-3dup
ENST00000267163.4:c.1499-7_1499-3dup	ENSP00000267163.4:n.1499-7_1499-3dup
NM_000321.2:c.1499-7_1499-3dup , LRG_517t1:c.1499-7_1499-3dup	NP_000312.2:n.1499-7_1499-3dup
XM_011535171.1:c.1238-7_1238-3dup	XP_011533473.1:n.1238-7_1238-3dup
XM_011535171.2:c.1238-7_1238-3dup	XP_011533473.1:n.1238-7_1238-3dup
NM_000321.3:c.1499-7_1499-3dup MANE Select	NP_000312.2:n.1499-7_1499-3dup