Canonical Allele Identifier: CA2622979153

Gene: RB1

Linked Data

• gnomAD v4: 13-48348925-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348932_48348933dup , CM000675.2:g.48348932_48348933dup	GRCh38
NC_000013.10:g.48923068_48923069dup , CM000675.1:g.48923068_48923069dup	GRCh37
NC_000013.9:g.47821069_47821070dup	NCBI36
NG_009009.1:g.50186_50187dup , LRG_517:g.50186_50187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-24_540-23dup MANE Select	ENSP00000267163.4:n.540-24_540-23dup
ENST00000650461.1:c.540-24_540-23dup	ENSP00000497193.1:n.540-24_540-23dup
ENST00000267163.4:c.540-24_540-23dup	ENSP00000267163.4:n.540-24_540-23dup
ENST00000467505.5:c.138-11085_138-11084dup	ENSP00000434702.1:n.138-11085_138-11084dup
ENST00000525036.1:n.702-24_702-23dup
NM_000321.2:c.540-24_540-23dup , LRG_517t1:c.540-24_540-23dup	NP_000312.2:n.540-24_540-23dup
XM_011535171.1:c.279-24_279-23dup	XP_011533473.1:n.279-24_279-23dup
XM_011535171.2:c.279-24_279-23dup	XP_011533473.1:n.279-24_279-23dup
NM_000321.3:c.540-24_540-23dup MANE Select	NP_000312.2:n.540-24_540-23dup