Canonical Allele Identifier: CA2090021122

Gene: RB1

Linked Data

• dbSNP Id: rs1949507909
• gnomAD v4: 13-48476898-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476901_48476902del , CM000675.2:g.48476901_48476902del	GRCh38
NC_000013.10:g.49051037_49051038del , CM000675.1:g.49051037_49051038del	GRCh37
NC_000013.9:g.47949038_47949039del	NCBI36
NG_009009.1:g.178155_178156del , LRG_517:g.178155_178156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+58_2663+59del MANE Select	ENSP00000267163.4:n.2663+58_2663+59del
ENST00000643064.1:c.194+95458_194+95459del
ENST00000650461.1:c.2663+58_2663+59del	ENSP00000497193.1:n.2663+58_2663+59del
ENST00000267163.4:c.2663+58_2663+59del	ENSP00000267163.4:n.2663+58_2663+59del
ENST00000484879.1:n.397+58_397+59del
ENST00000531171.5:n.266+58_266+59del
NM_000321.2:c.2663+58_2663+59del , LRG_517t1:c.2663+58_2663+59del	NP_000312.2:n.2663+58_2663+59del
XM_011535171.1:c.2402+58_2402+59del	XP_011533473.1:n.2402+58_2402+59del
XM_011535171.2:c.2402+58_2402+59del	XP_011533473.1:n.2402+58_2402+59del
NM_000321.3:c.2663+58_2663+59del MANE Select	NP_000312.2:n.2663+58_2663+59del