Canonical Allele Identifier: CA2089972246

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348614_48348615delinsAG , CM000675.2:g.48348614_48348615delinsAG	GRCh38
NC_000013.10:g.48922750_48922751delinsAG , CM000675.1:g.48922750_48922751delinsAG	GRCh37
NC_000013.9:g.47820751_47820752delinsAG	NCBI36
NG_009009.1:g.49868_49869delinsAG , LRG_517:g.49868_49869delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-342_540-341delinsAG MANE Select	ENSP00000267163.4:n.540-342_540-341delinsAG
ENST00000650461.1:c.540-342_540-341delinsAG	ENSP00000497193.1:n.540-342_540-341delinsAG
ENST00000267163.4:c.540-342_540-341delinsAG	ENSP00000267163.4:n.540-342_540-341delinsAG
ENST00000467505.5:c.138-11403_138-11402delinsAG	ENSP00000434702.1:n.138-11403_138-11402delinsAG
ENST00000525036.1:n.702-342_702-341delinsAG
NM_000321.2:c.540-342_540-341delinsAG , LRG_517t1:c.540-342_540-341delinsAG	NP_000312.2:n.540-342_540-341delinsAG
XM_011535171.1:c.279-342_279-341delinsAG	XP_011533473.1:n.279-342_279-341delinsAG
XM_011535171.2:c.279-342_279-341delinsAG	XP_011533473.1:n.279-342_279-341delinsAG
NM_000321.3:c.540-342_540-341delinsAG MANE Select	NP_000312.2:n.540-342_540-341delinsAG