Canonical Allele Identifier: CA609583750

Gene: RB1

Linked Data

• dbSNP Id: rs1363189735
• gnomAD v2: 13-49027027-TAAAA-T
• gnomAD v3: 13-48452891-TAAAA-T
• gnomAD v4: 13-48452891-TAAAA-T
• MyVariant Identifiers: chr13:g.49027028_49027031del (hg19) ; chr13:g.48452892_48452895del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452892_48452895del , CM000675.2:g.48452892_48452895del	GRCh38
NC_000013.10:g.49027028_49027031del , CM000675.1:g.49027028_49027031del	GRCh37
NC_000013.9:g.47925029_47925032del	NCBI36
NG_009009.1:g.154146_154149del , LRG_517:g.154146_154149del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-101_1696-98del MANE Select	ENSP00000267163.4:n.1696-101_1696-98del
ENST00000643064.1:c.194+71449_194+71452del
ENST00000650461.1:c.1696-101_1696-98del	ENSP00000497193.1:n.1696-101_1696-98del
ENST00000267163.4:c.1696-101_1696-98del	ENSP00000267163.4:n.1696-101_1696-98del
ENST00000480491.1:n.395-101_395-98del
NM_000321.2:c.1696-101_1696-98del , LRG_517t1:c.1696-101_1696-98del	NP_000312.2:n.1696-101_1696-98del
XM_011535171.1:c.1435-101_1435-98del	XP_011533473.1:n.1435-101_1435-98del
XM_011535171.2:c.1435-101_1435-98del	XP_011533473.1:n.1435-101_1435-98del
NM_000321.3:c.1696-101_1696-98del MANE Select	NP_000312.2:n.1696-101_1696-98del