Canonical Allele Identifier: CA2622979104
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48348858-TAATGCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348859_48348864del , CM000675.2:g.48348859_48348864del GRCh38
NC_000013.10:g.48922995_48923000del , CM000675.1:g.48922995_48923000del GRCh37
NC_000013.9:g.47820996_47821001del NCBI36
NG_009009.1:g.50113_50118del , LRG_517:g.50113_50118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-97_540-92del MANE Select ENSP00000267163.4:n.540-97_540-92del
ENST00000650461.1:c.540-97_540-92del ENSP00000497193.1:n.540-97_540-92del
ENST00000267163.4:c.540-97_540-92del ENSP00000267163.4:n.540-97_540-92del
ENST00000467505.5:c.138-11158_138-11153del ENSP00000434702.1:n.138-11158_138-11153del
ENST00000525036.1:n.702-97_702-92del
NM_000321.2:c.540-97_540-92del , LRG_517t1:c.540-97_540-92del NP_000312.2:n.540-97_540-92del
XM_011535171.1:c.279-97_279-92del XP_011533473.1:n.279-97_279-92del
XM_011535171.2:c.279-97_279-92del XP_011533473.1:n.279-97_279-92del
NM_000321.3:c.540-97_540-92del MANE Select NP_000312.2:n.540-97_540-92del
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