Canonical Allele Identifier: CA2622981559

Gene: RB1

Linked Data

• gnomAD v4: 13-48381480-GCATATGGCTAACAAATTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381481_48381498del , CM000675.2:g.48381481_48381498del	GRCh38
NC_000013.10:g.48955617_48955634del , CM000675.1:g.48955617_48955634del	GRCh37
NC_000013.9:g.47853618_47853635del	NCBI36
NG_009009.1:g.82735_82752del , LRG_517:g.82735_82752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+38_1695+55del MANE Select	ENSP00000267163.4:n.1695+38_1695+55del
ENST00000643064.1:c.194+38_194+55del
ENST00000650461.1:c.1695+38_1695+55del	ENSP00000497193.1:n.1695+38_1695+55del
ENST00000267163.4:c.1695+38_1695+55del	ENSP00000267163.4:n.1695+38_1695+55del
NM_000321.2:c.1695+38_1695+55del , LRG_517t1:c.1695+38_1695+55del	NP_000312.2:n.1695+38_1695+55del
XM_011535171.1:c.1434+38_1434+55del	XP_011533473.1:n.1434+38_1434+55del
XM_011535171.2:c.1434+38_1434+55del	XP_011533473.1:n.1434+38_1434+55del
NM_000321.3:c.1695+38_1695+55del MANE Select	NP_000312.2:n.1695+38_1695+55del