Canonical Allele Identifier: CA6978893

Gene: RB1

Linked Data

• ClinVar Variation Id: 3041904
• ClinVar RCV Id: RCV003932231
• dbSNP Id: rs753535084
• ExAC: 13:48954159 CTT / C
• gnomAD v2: 13-48954159-CTT-C
• gnomAD v3: 13-48380023-CTT-C
• gnomAD v4: 13-48380023-CTT-C
• MyVariant Identifiers: chr13:g.48954161_48954162del (hg19) ; chr13:g.48954160_48954161del (hg19) ; chr13:g.48380024_48380025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380035_48380036del , CM000675.2:g.48380035_48380036del	GRCh38
NC_000013.10:g.48954171_48954172del , CM000675.1:g.48954171_48954172del	GRCh37
NC_000013.9:g.47852172_47852173del	NCBI36
NG_009009.1:g.81289_81290del , LRG_517:g.81289_81290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-18_1390-17del MANE Select	ENSP00000267163.4:n.1390-18_1390-17del
ENST00000650461.1:c.1390-18_1390-17del	ENSP00000497193.1:n.1390-18_1390-17del
ENST00000267163.4:c.1390-18_1390-17del	ENSP00000267163.4:n.1390-18_1390-17del
NM_000321.2:c.1390-18_1390-17del , LRG_517t1:c.1390-18_1390-17del	NP_000312.2:n.1390-18_1390-17del
XM_011535171.1:c.1129-18_1129-17del	XP_011533473.1:n.1129-18_1129-17del
XM_011535171.2:c.1129-18_1129-17del	XP_011533473.1:n.1129-18_1129-17del
NM_000321.3:c.1390-18_1390-17del MANE Select	NP_000312.2:n.1390-18_1390-17del