Canonical Allele Identifier: CA2643066694

Gene: RERE

Linked Data

• gnomAD v4: 1-8360324-T-TCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360326_8360380dup , CM000663.2:g.8360326_8360380dup	GRCh38
NC_000001.10:g.8420386_8420440dup , CM000663.1:g.8420386_8420440dup	GRCh37
NC_000001.9:g.8342973_8343027dup	NCBI36
NG_047035.1:g.462313_462367dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1466_1520dup	ENSP00000515651.1:p.Gly509SerfsTer?
ENST00000400908.7:c.3128_3182dup MANE Select	ENSP00000383700.2:p.Gly1063SerfsTer?
ENST00000337907.7:c.3128_3182dup	ENSP00000338629.3:p.Gly1063SerfsTer?
ENST00000377464.5:c.2324_2378dup	ENSP00000366684.1:p.Gly795SerfsTer?
ENST00000400907.6:c.1540+4367_1540+4421dup	ENSP00000383699.2:n.1540+4367_1540+4421dup
ENST00000400908.6:c.3128_3182dup	ENSP00000383700.2:p.Gly1063SerfsTer?
ENST00000476556.5:c.1466_1520dup	ENSP00000422246.1:p.Gly509SerfsTer?
ENST00000505225.1:c.307+1081_307+1135dup	ENSP00000423451.1:n.307+1081_307+1135dup
NM_001042681.1:c.3128_3182dup	NP_001036146.1:p.Gly1063SerfsTer?
NM_001042682.1:c.1466_1520dup	NP_001036147.1:p.Gly509SerfsTer?
NM_012102.3:c.3128_3182dup	NP_036234.3:p.Gly1063SerfsTer?
XM_005263464.1:c.3128_3182dup	XP_005263521.1:p.Gly1063SerfsTer?
XM_005263466.1:c.2324_2378dup	XP_005263523.1:p.Gly795SerfsTer?
XM_006710653.1:c.3128_3182dup	XP_006710716.1:p.Gly1063SerfsTer?
XM_011541510.1:c.3002_3056dup	XP_011539812.1:p.Gly1021SerfsTer?
XM_011541511.1:c.3128_3182dup	XP_011539813.1:p.Gly1063SerfsTer?
XM_005263464.2:c.3128_3182dup	XP_005263521.1:p.Gly1063SerfsTer?
XM_011541510.2:c.3002_3056dup	XP_011539812.1:p.Gly1021SerfsTer?
XM_011541511.2:c.3128_3182dup	XP_011539813.1:p.Gly1063SerfsTer?
XM_017001358.1:c.3128_3182dup	XP_016856847.1:p.Gly1063SerfsTer?
XM_017001359.1:c.3128_3182dup	XP_016856848.1:p.Gly1063SerfsTer?
NM_001042681.2:c.3128_3182dup MANE Select	NP_001036146.1:p.Gly1063SerfsTer?
NM_001042682.2:c.1466_1520dup	NP_001036147.1:p.Gly509SerfsTer?
NM_012102.4:c.3128_3182dup	NP_036234.3:p.Gly1063SerfsTer?