Canonical Allele Identifier: CA609929376

Gene: RB1

Linked Data

• gnomAD v2: 13-48955603-A-AAAAAAGTAACT
• MyVariant Identifiers: chr13:g.48955605_48955607delinsAAAAGTAACTATTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381468_48381469insAAAAGTAACTA , CM000675.2:g.48381468_48381469insAAAAGTAACTA	GRCh38
NC_000013.10:g.48955604_48955605insAAAAGTAACTA , CM000675.1:g.48955604_48955605insAAAAGTAACTA	GRCh37
NC_000013.9:g.47853605_47853606insAAAAGTAACTA	NCBI36
NG_009009.1:g.82722_82723insAAAAGTAACTA , LRG_517:g.82722_82723insAAAAGTAACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1695+25_1695+26insAAAAGTAACTA MANE Select	ENSP00000267163.4:n.1695+25_1695+26insAAAAGTAACTA
ENST00000643064.1:c.194+25_194+26insAAAAGTAACTA
ENST00000650461.1:c.1695+25_1695+26insAAAAGTAACTA	ENSP00000497193.1:n.1695+25_1695+26insAAAAGTAACTA
ENST00000267163.4:c.1695+25_1695+26insAAAAGTAACTA	ENSP00000267163.4:n.1695+25_1695+26insAAAAGTAACTA
NM_000321.2:c.1695+25_1695+26insAAAAGTAACTA , LRG_517t1:c.1695+25_1695+26insAAAAGTAACTA	NP_000312.2:n.1695+25_1695+26insAAAAGTAACTA
XM_011535171.1:c.1434+25_1434+26insAAAAGTAACTA	XP_011533473.1:n.1434+25_1434+26insAAAAGTAACTA
XM_011535171.2:c.1434+25_1434+26insAAAAGTAACTA	XP_011533473.1:n.1434+25_1434+26insAAAAGTAACTA
NM_000321.3:c.1695+25_1695+26insAAAAGTAACTA MANE Select	NP_000312.2:n.1695+25_1695+26insAAAAGTAACTA