Canonical Allele Identifier: CA16614023
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410922
ClinVar RCV Id: RCV000476967
dbSNP Id: rs1060503075
MyVariant Identifiers: chr13:g.49037954_49037957del (hg19) chr13:g.48463818_48463821del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48463818_48463821del , CM000675.2:g.48463818_48463821del GRCh38
NC_000013.10:g.49037954_49037957del , CM000675.1:g.49037954_49037957del GRCh37
NC_000013.9:g.47935955_47935958del NCBI36
NG_009009.1:g.165072_165075del , LRG_517:g.165072_165075del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2194_2197del MANE Select ENSP00000267163.4:p.Pro732MetfsTer11
ENST00000643064.1:c.194+82375_194+82378del
ENST00000650461.1:c.2194_2197del ENSP00000497193.1:p.Pro732MetfsTer11
ENST00000267163.4:c.2194_2197del ENSP00000267163.4:p.Pro732MetfsTer11
NM_000321.2:c.2194_2197del , LRG_517t1:c.2194_2197del NP_000312.2:p.Pro732MetfsTer11
XM_011535171.1:c.1933_1936del XP_011533473.1:p.Pro645MetfsTer11
XM_011535171.2:c.1933_1936del XP_011533473.1:p.Pro645MetfsTer11
NM_000321.3:c.2194_2197del MANE Select NP_000312.2:p.Pro732MetfsTer11
Search 100 bp 5'
Search 100 bp 3'