Canonical Allele Identifier: CA698660000

Gene: RB1

Linked Data

• dbSNP Id: rs58957756
• gnomAD v3: 13-48348680-A-ATT
• gnomAD v4: 13-48348680-A-ATT
• MyVariant Identifiers: chr13:g.48922816_48922817insTT (hg19) ; chr13:g.48348680_48348681insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348690_48348691dup , CM000675.2:g.48348690_48348691dup	GRCh38
NC_000013.10:g.48922826_48922827dup , CM000675.1:g.48922826_48922827dup	GRCh37
NC_000013.9:g.47820827_47820828dup	NCBI36
NG_009009.1:g.49944_49945dup , LRG_517:g.49944_49945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-266_540-265dup MANE Select	ENSP00000267163.4:n.540-266_540-265dup
ENST00000650461.1:c.540-266_540-265dup	ENSP00000497193.1:n.540-266_540-265dup
ENST00000267163.4:c.540-266_540-265dup	ENSP00000267163.4:n.540-266_540-265dup
ENST00000467505.5:c.138-11327_138-11326dup	ENSP00000434702.1:n.138-11327_138-11326dup
ENST00000525036.1:n.702-266_702-265dup
NM_000321.2:c.540-266_540-265dup , LRG_517t1:c.540-266_540-265dup	NP_000312.2:n.540-266_540-265dup
XM_011535171.1:c.279-266_279-265dup	XP_011533473.1:n.279-266_279-265dup
XM_011535171.2:c.279-266_279-265dup	XP_011533473.1:n.279-266_279-265dup
NM_000321.3:c.540-266_540-265dup MANE Select	NP_000312.2:n.540-266_540-265dup