Canonical Allele Identifier: CA2622986179

Gene: RB1

Linked Data

• gnomAD v4: 13-48476919-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476920_48476922del , CM000675.2:g.48476920_48476922del	GRCh38
NC_000013.10:g.49051056_49051058del , CM000675.1:g.49051056_49051058del	GRCh37
NC_000013.9:g.47949057_47949059del	NCBI36
NG_009009.1:g.178174_178176del , LRG_517:g.178174_178176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+77_2663+79del MANE Select	ENSP00000267163.4:n.2663+77_2663+79del
ENST00000643064.1:c.194+95477_194+95479del
ENST00000650461.1:c.2663+77_2663+79del	ENSP00000497193.1:n.2663+77_2663+79del
ENST00000267163.4:c.2663+77_2663+79del	ENSP00000267163.4:n.2663+77_2663+79del
ENST00000484879.1:n.397+77_397+79del
ENST00000531171.5:n.266+77_266+79del
NM_000321.2:c.2663+77_2663+79del , LRG_517t1:c.2663+77_2663+79del	NP_000312.2:n.2663+77_2663+79del
XM_011535171.1:c.2402+77_2402+79del	XP_011533473.1:n.2402+77_2402+79del
XM_011535171.2:c.2402+77_2402+79del	XP_011533473.1:n.2402+77_2402+79del
NM_000321.3:c.2663+77_2663+79del MANE Select	NP_000312.2:n.2663+77_2663+79del