Canonical Allele Identifier: CA609584610

Gene: RB1

Linked Data

• dbSNP Id: rs1330699212
• gnomAD v2: 13-49033828-TCGGCTAGCCTATCTC-T
• gnomAD v4: 13-48459692-TCGGCTAGCCTATCTC-T
• MyVariant Identifiers: chr13:g.49033829_49033843del (hg19) ; chr13:g.48459693_48459707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459699_48459713del , CM000675.2:g.48459699_48459713del	GRCh38
NC_000013.10:g.49033835_49033849del , CM000675.1:g.49033835_49033849del	GRCh37
NC_000013.9:g.47931836_47931850del	NCBI36
NG_009009.1:g.160953_160967del , LRG_517:g.160953_160967del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1972_1986del MANE Select	ENSP00000267163.4:p.Ala658_Leu662del
ENST00000643064.1:c.194+78256_194+78270del
ENST00000650461.1:c.1972_1986del	ENSP00000497193.1:p.Ala658_Leu662del
ENST00000267163.4:c.1972_1986del	ENSP00000267163.4:p.Ala658_Leu662del
NM_000321.2:c.1972_1986del , LRG_517t1:c.1972_1986del	NP_000312.2:p.Ala658_Leu662del
XM_011535171.1:c.1711_1725del	XP_011533473.1:p.Ala571_Leu575del
XM_011535171.2:c.1711_1725del	XP_011533473.1:p.Ala571_Leu575del
NM_000321.3:c.1972_1986del MANE Select	NP_000312.2:p.Ala658_Leu662del