Canonical Allele Identifier: CA2622984773

Gene: RB1

Linked Data

• gnomAD v4: 13-48452856-ATTCTGACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452859_48452867del , CM000675.2:g.48452859_48452867del	GRCh38
NC_000013.10:g.49026995_49027003del , CM000675.1:g.49026995_49027003del	GRCh37
NC_000013.9:g.47924996_47925004del	NCBI36
NG_009009.1:g.154113_154121del , LRG_517:g.154113_154121del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-134_1696-126del MANE Select	ENSP00000267163.4:n.1696-134_1696-126del
ENST00000643064.1:c.194+71416_194+71424del
ENST00000650461.1:c.1696-134_1696-126del	ENSP00000497193.1:n.1696-134_1696-126del
ENST00000267163.4:c.1696-134_1696-126del	ENSP00000267163.4:n.1696-134_1696-126del
ENST00000480491.1:n.395-134_395-126del
NM_000321.2:c.1696-134_1696-126del , LRG_517t1:c.1696-134_1696-126del	NP_000312.2:n.1696-134_1696-126del
XM_011535171.1:c.1435-134_1435-126del	XP_011533473.1:n.1435-134_1435-126del
XM_011535171.2:c.1435-134_1435-126del	XP_011533473.1:n.1435-134_1435-126del
NM_000321.3:c.1696-134_1696-126del MANE Select	NP_000312.2:n.1696-134_1696-126del