Canonical Allele Identifier: CA2622986146

Gene: RB1

Linked Data

• gnomAD v4: 13-48476847-G-GGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476848_48476849insTTG , CM000675.2:g.48476848_48476849insTTG	GRCh38
NC_000013.10:g.49050984_49050985insTTG , CM000675.1:g.49050984_49050985insTTG	GRCh37
NC_000013.9:g.47948985_47948986insTTG	NCBI36
NG_009009.1:g.178102_178103insTTG , LRG_517:g.178102_178103insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+5_2663+6insTTG MANE Select	ENSP00000267163.4:n.2663+5_2663+6insTTG
ENST00000643064.1:c.194+95405_194+95406insTTG
ENST00000650461.1:c.2663+5_2663+6insTTG	ENSP00000497193.1:n.2663+5_2663+6insTTG
ENST00000267163.4:c.2663+5_2663+6insTTG	ENSP00000267163.4:n.2663+5_2663+6insTTG
ENST00000484879.1:n.397+5_397+6insTTG
ENST00000531171.5:n.266+5_266+6insTTG
NM_000321.2:c.2663+5_2663+6insTTG , LRG_517t1:c.2663+5_2663+6insTTG	NP_000312.2:n.2663+5_2663+6insTTG
XM_011535171.1:c.2402+5_2402+6insTTG	XP_011533473.1:n.2402+5_2402+6insTTG
XM_011535171.2:c.2402+5_2402+6insTTG	XP_011533473.1:n.2402+5_2402+6insTTG
NM_000321.3:c.2663+5_2663+6insTTG MANE Select	NP_000312.2:n.2663+5_2663+6insTTG