Canonical Allele Identifier: CA2622985538

Gene: RB1

Linked Data

• gnomAD v4: 13-48464931-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48464935del , CM000675.2:g.48464935del	GRCh38
NC_000013.10:g.49039071del , CM000675.1:g.49039071del	GRCh37
NC_000013.9:g.47937072del	NCBI36
NG_009009.1:g.166189del , LRG_517:g.166189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.2212-63del MANE Select	ENSP00000267163.4:n.2212-63del
ENST00000643064.1:c.194+83492del
ENST00000650461.1:c.2212-63del	ENSP00000497193.1:n.2212-63del
ENST00000267163.4:c.2212-63del	ENSP00000267163.4:n.2212-63del
NM_000321.2:c.2212-63del , LRG_517t1:c.2212-63del	NP_000312.2:n.2212-63del
XM_011535171.1:c.1951-63del	XP_011533473.1:n.1951-63del
XM_011535171.2:c.1951-63del	XP_011533473.1:n.1951-63del
NM_000321.3:c.2212-63del MANE Select	NP_000312.2:n.2212-63del