Canonical Allele Identifier: CA955793594

Gene: RB1

Linked Data

• gnomAD v3: 13-48348691-TGCAGC-T
• gnomAD v4: 13-48348691-TGCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348692_48348696del , CM000675.2:g.48348692_48348696del	GRCh38
NC_000013.10:g.48922828_48922832del , CM000675.1:g.48922828_48922832del	GRCh37
NC_000013.9:g.47820829_47820833del	NCBI36
NG_009009.1:g.49946_49950del , LRG_517:g.49946_49950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-264_540-260del MANE Select	ENSP00000267163.4:n.540-264_540-260del
ENST00000650461.1:c.540-264_540-260del	ENSP00000497193.1:n.540-264_540-260del
ENST00000267163.4:c.540-264_540-260del	ENSP00000267163.4:n.540-264_540-260del
ENST00000467505.5:c.138-11325_138-11321del	ENSP00000434702.1:n.138-11325_138-11321del
ENST00000525036.1:n.702-264_702-260del
NM_000321.2:c.540-264_540-260del , LRG_517t1:c.540-264_540-260del	NP_000312.2:n.540-264_540-260del
XM_011535171.1:c.279-264_279-260del	XP_011533473.1:n.279-264_279-260del
XM_011535171.2:c.279-264_279-260del	XP_011533473.1:n.279-264_279-260del
NM_000321.3:c.540-264_540-260del MANE Select	NP_000312.2:n.540-264_540-260del