Canonical Allele Identifier: CA2622980078

Gene: RB1

Linked Data

• gnomAD v4: 13-48364761-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364765_48364767del , CM000675.2:g.48364765_48364767del	GRCh38
NC_000013.10:g.48938901_48938903del , CM000675.1:g.48938901_48938903del	GRCh37
NC_000013.9:g.47836902_47836904del	NCBI36
NG_009009.1:g.66019_66021del , LRG_517:g.66019_66021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.862-129_862-127del MANE Select	ENSP00000267163.4:n.862-129_862-127del
ENST00000650461.1:c.862-129_862-127del	ENSP00000497193.1:n.862-129_862-127del
ENST00000267163.4:c.862-129_862-127del	ENSP00000267163.4:n.862-129_862-127del
NM_000321.2:c.862-129_862-127del , LRG_517t1:c.862-129_862-127del	NP_000312.2:n.862-129_862-127del
XM_011535171.1:c.601-129_601-127del	XP_011533473.1:n.601-129_601-127del
XM_011535171.2:c.601-129_601-127del	XP_011533473.1:n.601-129_601-127del
NM_000321.3:c.862-129_862-127del MANE Select	NP_000312.2:n.862-129_862-127del