Canonical Allele Identifier: CA6978894
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs753535084
ExAC: 13:48954159 C / CTT
gnomAD v2: 13-48954159-C-CTT
gnomAD v3: 13-48380023-C-CTT
gnomAD v4: 13-48380023-C-CTT
MyVariant Identifiers: chr13:g.48954162_48954163insTT (hg19) chr13:g.48954161_48954162insTT (hg19) chr13:g.48954159_48954160insTT (hg19) chr13:g.48380023_48380024insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380035_48380036dup , CM000675.2:g.48380035_48380036dup GRCh38
NC_000013.10:g.48954171_48954172dup , CM000675.1:g.48954171_48954172dup GRCh37
NC_000013.9:g.47852172_47852173dup NCBI36
NG_009009.1:g.81289_81290dup , LRG_517:g.81289_81290dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-18_1390-17dup MANE Select ENSP00000267163.4:n.1390-18_1390-17dup
ENST00000650461.1:c.1390-18_1390-17dup ENSP00000497193.1:n.1390-18_1390-17dup
ENST00000267163.4:c.1390-18_1390-17dup ENSP00000267163.4:n.1390-18_1390-17dup
NM_000321.2:c.1390-18_1390-17dup , LRG_517t1:c.1390-18_1390-17dup NP_000312.2:n.1390-18_1390-17dup
XM_011535171.1:c.1129-18_1129-17dup XP_011533473.1:n.1129-18_1129-17dup
XM_011535171.2:c.1129-18_1129-17dup XP_011533473.1:n.1129-18_1129-17dup
NM_000321.3:c.1390-18_1390-17dup MANE Select NP_000312.2:n.1390-18_1390-17dup
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