Canonical Allele Identifier: CA2622981497

Gene: RB1

Linked Data

• gnomAD v4: 13-48381171-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381176_48381178del , CM000675.2:g.48381176_48381178del	GRCh38
NC_000013.10:g.48955312_48955314del , CM000675.1:g.48955312_48955314del	GRCh37
NC_000013.9:g.47853313_47853315del	NCBI36
NG_009009.1:g.82430_82432del , LRG_517:g.82430_82432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1499-71_1499-69del MANE Select	ENSP00000267163.4:n.1499-71_1499-69del
ENST00000650461.1:c.1499-71_1499-69del	ENSP00000497193.1:n.1499-71_1499-69del
ENST00000267163.4:c.1499-71_1499-69del	ENSP00000267163.4:n.1499-71_1499-69del
NM_000321.2:c.1499-71_1499-69del , LRG_517t1:c.1499-71_1499-69del	NP_000312.2:n.1499-71_1499-69del
XM_011535171.1:c.1238-71_1238-69del	XP_011533473.1:n.1238-71_1238-69del
XM_011535171.2:c.1238-71_1238-69del	XP_011533473.1:n.1238-71_1238-69del
NM_000321.3:c.1499-71_1499-69del MANE Select	NP_000312.2:n.1499-71_1499-69del