Canonical Allele Identifier: CA609572736

Gene: RB1

Linked Data

• dbSNP Id: rs1419307382
• gnomAD v2: 13-48922818-T-TA
• gnomAD v3: 13-48348682-T-TA
• gnomAD v4: 13-48348682-T-TA
• MyVariant Identifiers: chr13:g.48922818_48922819insA (hg19) ; chr13:g.48348682_48348683insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348682_48348683insA , CM000675.2:g.48348682_48348683insA	GRCh38
NC_000013.10:g.48922818_48922819insA , CM000675.1:g.48922818_48922819insA	GRCh37
NC_000013.9:g.47820819_47820820insA	NCBI36
NG_009009.1:g.49936_49937insA , LRG_517:g.49936_49937insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-274_540-273insA MANE Select	ENSP00000267163.4:n.540-274_540-273insA
ENST00000650461.1:c.540-274_540-273insA	ENSP00000497193.1:n.540-274_540-273insA
ENST00000267163.4:c.540-274_540-273insA	ENSP00000267163.4:n.540-274_540-273insA
ENST00000467505.5:c.138-11335_138-11334insA	ENSP00000434702.1:n.138-11335_138-11334insA
ENST00000525036.1:n.702-274_702-273insA
NM_000321.2:c.540-274_540-273insA , LRG_517t1:c.540-274_540-273insA	NP_000312.2:n.540-274_540-273insA
XM_011535171.1:c.279-274_279-273insA	XP_011533473.1:n.279-274_279-273insA
XM_011535171.2:c.279-274_279-273insA	XP_011533473.1:n.279-274_279-273insA
NM_000321.3:c.540-274_540-273insA MANE Select	NP_000312.2:n.540-274_540-273insA