Canonical Allele Identifier: CA2685694566

Gene: RHEB

Linked Data

• gnomAD v4: 7-151490940-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151490941dup , CM000669.2:g.151490941dup	GRCh38
NC_000007.13:g.151188027dup , CM000669.1:g.151188027dup	GRCh37
NC_000007.12:g.150818960dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.124+2dup MANE Select	ENSP00000262187.5:n.124+2dup
ENST00000262187.9:c.124+2dup	ENSP00000262187.5:n.124+2dup
ENST00000470370.1:c.-192+2dup	ENSP00000417212.1:n.-192+2dup
ENST00000472642.5:c.-192+2dup	ENSP00000420726.1:n.-192+2dup
ENST00000478470.5:c.*72+2dup	ENSP00000417802.1:n.*72+2dup
ENST00000496004.5:c.-192+2dup	ENSP00000418161.1:n.-192+2dup
NM_005614.3:c.124+2dup	NP_005605.1:n.124+2dup
XM_011516457.1:c.91+2dup	XP_011514759.1:n.91+2dup
XM_011516457.2:c.91+2dup	XP_011514759.1:n.91+2dup
XM_024446854.1:c.91+2dup	XP_024302622.1:n.91+2dup
NM_005614.4:c.124+2dup MANE Select	NP_005605.1:n.124+2dup