Canonical Allele Identifier: CA2622985021

Gene: RB1

Linked Data

• gnomAD v4: 13-48459540-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459545del , CM000675.2:g.48459545del	GRCh38
NC_000013.10:g.49033681del , CM000675.1:g.49033681del	GRCh37
NC_000013.9:g.47931682del	NCBI36
NG_009009.1:g.160799del , LRG_517:g.160799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1961-143del MANE Select	ENSP00000267163.4:n.1961-143del
ENST00000643064.1:c.194+78102del
ENST00000650461.1:c.1961-143del	ENSP00000497193.1:n.1961-143del
ENST00000267163.4:c.1961-143del	ENSP00000267163.4:n.1961-143del
NM_000321.2:c.1961-143del , LRG_517t1:c.1961-143del	NP_000312.2:n.1961-143del
XM_011535171.1:c.1700-143del	XP_011533473.1:n.1700-143del
XM_011535171.2:c.1700-143del	XP_011533473.1:n.1700-143del
NM_000321.3:c.1961-143del MANE Select	NP_000312.2:n.1961-143del