Canonical Allele Identifier: CA2622980322

Gene: RB1

Linked Data

• gnomAD v4: 13-48367415-TAATGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48367419_48367423del , CM000675.2:g.48367419_48367423del	GRCh38
NC_000013.10:g.48941555_48941559del , CM000675.1:g.48941555_48941559del	GRCh37
NC_000013.9:g.47839556_47839560del	NCBI36
NG_009009.1:g.68673_68677del , LRG_517:g.68673_68677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.940-75_940-71del MANE Select	ENSP00000267163.4:n.940-75_940-71del
ENST00000650461.1:c.940-75_940-71del	ENSP00000497193.1:n.940-75_940-71del
ENST00000267163.4:c.940-75_940-71del	ENSP00000267163.4:n.940-75_940-71del
NM_000321.2:c.940-75_940-71del , LRG_517t1:c.940-75_940-71del	NP_000312.2:n.940-75_940-71del
XM_011535171.1:c.679-75_679-71del	XP_011533473.1:n.679-75_679-71del
XM_011535171.2:c.679-75_679-71del	XP_011533473.1:n.679-75_679-71del
XR_002957522.1:n.122-2444_122-2440del
NM_000321.3:c.940-75_940-71del MANE Select	NP_000312.2:n.940-75_940-71del