Canonical Allele Identifier: CA2622985028
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48459549-GAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459552_48459553del , CM000675.2:g.48459552_48459553del GRCh38
NC_000013.10:g.49033688_49033689del , CM000675.1:g.49033688_49033689del GRCh37
NC_000013.9:g.47931689_47931690del NCBI36
NG_009009.1:g.160806_160807del , LRG_517:g.160806_160807del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-136_1961-135del MANE Select ENSP00000267163.4:n.1961-136_1961-135del
ENST00000643064.1:c.194+78109_194+78110del
ENST00000650461.1:c.1961-136_1961-135del ENSP00000497193.1:n.1961-136_1961-135del
ENST00000267163.4:c.1961-136_1961-135del ENSP00000267163.4:n.1961-136_1961-135del
NM_000321.2:c.1961-136_1961-135del , LRG_517t1:c.1961-136_1961-135del NP_000312.2:n.1961-136_1961-135del
XM_011535171.1:c.1700-136_1700-135del XP_011533473.1:n.1700-136_1700-135del
XM_011535171.2:c.1700-136_1700-135del XP_011533473.1:n.1700-136_1700-135del
NM_000321.3:c.1961-136_1961-135del MANE Select NP_000312.2:n.1961-136_1961-135del
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