Canonical Allele Identifier: CA571089

Gene: RERE

Linked Data

• ClinVar Variation Id: 2182228
• ClinVar RCV Id: RCV002610741
• dbSNP Id: rs769497707
• ExAC: 1:8419848 C / CCGCTCT
• gnomAD v2: 1-8419848-C-CCGCTCT
• gnomAD v3: 1-8359788-C-CCGCTCT
• gnomAD v4: 1-8359788-C-CCGCTCT
• COSMIC: COSM4577604
• MyVariant Identifiers: chr1:g.8419854_8419855insCGCTCT (hg19) ; chr1:g.8419848_8419849insCGCTCT (hg19) ; chr1:g.8359794_8359795insCGCTCT (hg38) ; chr1:g.8359788_8359789insCGCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359794_8359799dup , CM000663.2:g.8359794_8359799dup	GRCh38
NC_000001.10:g.8419854_8419859dup , CM000663.1:g.8419854_8419859dup	GRCh37
NC_000001.9:g.8342441_8342446dup	NCBI36
NG_047035.1:g.462898_462903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1926_1931dup	ENSP00000515651.1:p.Arg644_Glu645insGluArg
ENST00000400908.7:c.3588_3593dup MANE Select	ENSP00000383700.2:p.Arg1198_Glu1199insGluArg
ENST00000337907.7:c.3588_3593dup	ENSP00000338629.3:p.Arg1198_Glu1199insGluArg
ENST00000377464.5:c.2784_2789dup	ENSP00000366684.1:p.Arg930_Glu931insGluArg
ENST00000400907.6:c.1541-4195_1541-4190dup	ENSP00000383699.2:n.1541-4195_1541-4190dup
ENST00000400908.6:c.3588_3593dup	ENSP00000383700.2:p.Arg1198_Glu1199insGluArg
ENST00000476556.5:c.1926_1931dup	ENSP00000422246.1:p.Arg644_Glu645insGluArg
ENST00000505225.1:c.307+1666_307+1671dup	ENSP00000423451.1:n.307+1666_307+1671dup
NM_001042681.1:c.3588_3593dup	NP_001036146.1:p.Arg1198_Glu1199insGluArg
NM_001042682.1:c.1926_1931dup	NP_001036147.1:p.Arg644_Glu645insGluArg
NM_012102.3:c.3588_3593dup	NP_036234.3:p.Arg1198_Glu1199insGluArg
XM_005263464.1:c.3588_3593dup	XP_005263521.1:p.Arg1198_Glu1199insGluArg
XM_005263466.1:c.2784_2789dup	XP_005263523.1:p.Arg930_Glu931insGluArg
XM_006710653.1:c.3588_3593dup	XP_006710716.1:p.Arg1198_Glu1199insGluArg
XM_011541510.1:c.3462_3467dup	XP_011539812.1:p.Arg1156_Glu1157insGluArg
XM_011541511.1:c.3395+318_3395+323dup	XP_011539813.1:n.3395+318_3395+323dup
XM_005263464.2:c.3588_3593dup	XP_005263521.1:p.Arg1198_Glu1199insGluArg
XM_011541510.2:c.3462_3467dup	XP_011539812.1:p.Arg1156_Glu1157insGluArg
XM_011541511.2:c.3395+318_3395+323dup	XP_011539813.1:n.3395+318_3395+323dup
XM_017001358.1:c.3588_3593dup	XP_016856847.1:p.Arg1198_Glu1199insGluArg
XM_017001359.1:c.3588_3593dup	XP_016856848.1:p.Arg1198_Glu1199insGluArg
NM_001042681.2:c.3588_3593dup MANE Select	NP_001036146.1:p.Arg1198_Glu1199insGluArg
NM_001042682.2:c.1926_1931dup	NP_001036147.1:p.Arg644_Glu645insGluArg
NM_012102.4:c.3588_3593dup	NP_036234.3:p.Arg1198_Glu1199insGluArg