Canonical Allele Identifier: CA955785457
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v3: 13-48459614-TTCATGATTTG-T
gnomAD v4: 13-48459614-TTCATGATTTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459615_48459624del , CM000675.2:g.48459615_48459624del GRCh38
NC_000013.10:g.49033751_49033760del , CM000675.1:g.49033751_49033760del GRCh37
NC_000013.9:g.47931752_47931761del NCBI36
NG_009009.1:g.160869_160878del , LRG_517:g.160869_160878del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-73_1961-64del MANE Select ENSP00000267163.4:n.1961-73_1961-64del
ENST00000643064.1:c.194+78172_194+78181del
ENST00000650461.1:c.1961-73_1961-64del ENSP00000497193.1:n.1961-73_1961-64del
ENST00000267163.4:c.1961-73_1961-64del ENSP00000267163.4:n.1961-73_1961-64del
NM_000321.2:c.1961-73_1961-64del , LRG_517t1:c.1961-73_1961-64del NP_000312.2:n.1961-73_1961-64del
XM_011535171.1:c.1700-73_1700-64del XP_011533473.1:n.1700-73_1700-64del
XM_011535171.2:c.1700-73_1700-64del XP_011533473.1:n.1700-73_1700-64del
NM_000321.3:c.1961-73_1961-64del MANE Select NP_000312.2:n.1961-73_1961-64del
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