Canonical Allele Identifier: CA2622985032
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48459557-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459559del , CM000675.2:g.48459559del GRCh38
NC_000013.10:g.49033695del , CM000675.1:g.49033695del GRCh37
NC_000013.9:g.47931696del NCBI36
NG_009009.1:g.160813del , LRG_517:g.160813del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-129del MANE Select ENSP00000267163.4:n.1961-129del
ENST00000643064.1:c.194+78116del
ENST00000650461.1:c.1961-129del ENSP00000497193.1:n.1961-129del
ENST00000267163.4:c.1961-129del ENSP00000267163.4:n.1961-129del
NM_000321.2:c.1961-129del , LRG_517t1:c.1961-129del NP_000312.2:n.1961-129del
XM_011535171.1:c.1700-129del XP_011533473.1:n.1700-129del
XM_011535171.2:c.1700-129del XP_011533473.1:n.1700-129del
NM_000321.3:c.1961-129del MANE Select NP_000312.2:n.1961-129del
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