Canonical Allele Identifier: CA2089972330

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348732_48348733delinsTA , CM000675.2:g.48348732_48348733delinsTA	GRCh38
NC_000013.10:g.48922868_48922869delinsTA , CM000675.1:g.48922868_48922869delinsTA	GRCh37
NC_000013.9:g.47820869_47820870delinsTA	NCBI36
NG_009009.1:g.49986_49987delinsTA , LRG_517:g.49986_49987delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-224_540-223delinsTA MANE Select	ENSP00000267163.4:n.540-224_540-223delinsTA
ENST00000650461.1:c.540-224_540-223delinsTA	ENSP00000497193.1:n.540-224_540-223delinsTA
ENST00000267163.4:c.540-224_540-223delinsTA	ENSP00000267163.4:n.540-224_540-223delinsTA
ENST00000467505.5:c.138-11285_138-11284delinsTA	ENSP00000434702.1:n.138-11285_138-11284delinsTA
ENST00000525036.1:n.702-224_702-223delinsTA
NM_000321.2:c.540-224_540-223delinsTA , LRG_517t1:c.540-224_540-223delinsTA	NP_000312.2:n.540-224_540-223delinsTA
XM_011535171.1:c.279-224_279-223delinsTA	XP_011533473.1:n.279-224_279-223delinsTA
XM_011535171.2:c.279-224_279-223delinsTA	XP_011533473.1:n.279-224_279-223delinsTA
NM_000321.3:c.540-224_540-223delinsTA MANE Select	NP_000312.2:n.540-224_540-223delinsTA