Canonical Allele Identifier: CA2622986162

Gene: RB1

Linked Data

• gnomAD v4: 13-48476891-G-GATTCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476891_48476892insATTCCCCA , CM000675.2:g.48476891_48476892insATTCCCCA	GRCh38
NC_000013.10:g.49051027_49051028insATTCCCCA , CM000675.1:g.49051027_49051028insATTCCCCA	GRCh37
NC_000013.9:g.47949028_47949029insATTCCCCA	NCBI36
NG_009009.1:g.178145_178146insATTCCCCA , LRG_517:g.178145_178146insATTCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+48_2663+49insATTCCCCA MANE Select	ENSP00000267163.4:n.2663+48_2663+49insATTCCCCA
ENST00000643064.1:c.194+95448_194+95449insATTCCCCA
ENST00000650461.1:c.2663+48_2663+49insATTCCCCA	ENSP00000497193.1:n.2663+48_2663+49insATTCCCCA
ENST00000267163.4:c.2663+48_2663+49insATTCCCCA	ENSP00000267163.4:n.2663+48_2663+49insATTCCCCA
ENST00000484879.1:n.397+48_397+49insATTCCCCA
ENST00000531171.5:n.266+48_266+49insATTCCCCA
NM_000321.2:c.2663+48_2663+49insATTCCCCA , LRG_517t1:c.2663+48_2663+49insATTCCCCA	NP_000312.2:n.2663+48_2663+49insATTCCCCA
XM_011535171.1:c.2402+48_2402+49insATTCCCCA	XP_011533473.1:n.2402+48_2402+49insATTCCCCA
XM_011535171.2:c.2402+48_2402+49insATTCCCCA	XP_011533473.1:n.2402+48_2402+49insATTCCCCA
NM_000321.3:c.2663+48_2663+49insATTCCCCA MANE Select	NP_000312.2:n.2663+48_2663+49insATTCCCCA