Canonical Allele Identifier: CA2622977288

Gene: RB1

Linked Data

• gnomAD v4: 13-48303903-GAAAGGCGTCATGCCGCCCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303906_48303925del , CM000675.2:g.48303906_48303925del	GRCh38
NC_000013.10:g.48878042_48878061del , CM000675.1:g.48878042_48878061del	GRCh37
NC_000013.9:g.47776043_47776062del	NCBI36
NG_009009.1:g.5160_5179del , LRG_517:g.5160_5179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.-7_13del
ENST00000646097.1:c.-7_13del
ENST00000650461.1:c.-7_13del
ENST00000267163.4:c.-7_13del
ENST00000467505.5:c.-7_13del
ENST00000525036.1:n.156_175del
NM_000321.2:c.-7_13del , LRG_517t1:c.-7_13del
NM_000321.3:c.-7_13del