Canonical Allele Identifier: CA2622986166

Gene: RB1

Linked Data

• gnomAD v4: 13-48476892-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476892_48476893insAT , CM000675.2:g.48476892_48476893insAT	GRCh38
NC_000013.10:g.49051028_49051029insAT , CM000675.1:g.49051028_49051029insAT	GRCh37
NC_000013.9:g.47949029_47949030insAT	NCBI36
NG_009009.1:g.178146_178147insAT , LRG_517:g.178146_178147insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+49_2663+50insAT MANE Select	ENSP00000267163.4:n.2663+49_2663+50insAT
ENST00000643064.1:c.194+95449_194+95450insAT
ENST00000650461.1:c.2663+49_2663+50insAT	ENSP00000497193.1:n.2663+49_2663+50insAT
ENST00000267163.4:c.2663+49_2663+50insAT	ENSP00000267163.4:n.2663+49_2663+50insAT
ENST00000484879.1:n.397+49_397+50insAT
ENST00000531171.5:n.266+49_266+50insAT
NM_000321.2:c.2663+49_2663+50insAT , LRG_517t1:c.2663+49_2663+50insAT	NP_000312.2:n.2663+49_2663+50insAT
XM_011535171.1:c.2402+49_2402+50insAT	XP_011533473.1:n.2402+49_2402+50insAT
XM_011535171.2:c.2402+49_2402+50insAT	XP_011533473.1:n.2402+49_2402+50insAT
NM_000321.3:c.2663+49_2663+50insAT MANE Select	NP_000312.2:n.2663+49_2663+50insAT