Canonical Allele Identifier: CA521020232

Gene: RERE

Linked Data

• ClinVar Variation Id: 2073137
• ClinVar RCV Id: RCV002971651
• dbSNP Id: rs1309469940
• gnomAD v2: 1-8419838-C-CCTCGCG
• gnomAD v4: 1-8359778-C-CCTCGCG
• MyVariant Identifiers: chr1:g.8419838_8419839insCTCGCG (hg19) ; chr1:g.8359778_8359779insCTCGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359782_8359787dup , CM000663.2:g.8359782_8359787dup	GRCh38
NC_000001.10:g.8419842_8419847dup , CM000663.1:g.8419842_8419847dup	GRCh37
NC_000001.9:g.8342429_8342434dup	NCBI36
NG_047035.1:g.462908_462913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1936_1941dup	ENSP00000515651.1:p.Glu647_Ala648insArgGlu
ENST00000400908.7:c.3598_3603dup MANE Select	ENSP00000383700.2:p.Glu1201_Ala1202insArgGlu
ENST00000337907.7:c.3598_3603dup	ENSP00000338629.3:p.Glu1201_Ala1202insArgGlu
ENST00000377464.5:c.2794_2799dup	ENSP00000366684.1:p.Glu933_Ala934insArgGlu
ENST00000400907.6:c.1541-4185_1541-4180dup	ENSP00000383699.2:n.1541-4185_1541-4180dup
ENST00000400908.6:c.3598_3603dup	ENSP00000383700.2:p.Glu1201_Ala1202insArgGlu
ENST00000476556.5:c.1936_1941dup	ENSP00000422246.1:p.Glu647_Ala648insArgGlu
ENST00000505225.1:c.307+1676_307+1681dup	ENSP00000423451.1:n.307+1676_307+1681dup
NM_001042681.1:c.3598_3603dup	NP_001036146.1:p.Glu1201_Ala1202insArgGlu
NM_001042682.1:c.1936_1941dup	NP_001036147.1:p.Glu647_Ala648insArgGlu
NM_012102.3:c.3598_3603dup	NP_036234.3:p.Glu1201_Ala1202insArgGlu
XM_005263464.1:c.3598_3603dup	XP_005263521.1:p.Glu1201_Ala1202insArgGlu
XM_005263466.1:c.2794_2799dup	XP_005263523.1:p.Glu933_Ala934insArgGlu
XM_006710653.1:c.3598_3603dup	XP_006710716.1:p.Glu1201_Ala1202insArgGlu
XM_011541510.1:c.3472_3477dup	XP_011539812.1:p.Glu1159_Ala1160insArgGlu
XM_011541511.1:c.3395+328_3395+333dup	XP_011539813.1:n.3395+328_3395+333dup
XM_005263464.2:c.3598_3603dup	XP_005263521.1:p.Glu1201_Ala1202insArgGlu
XM_011541510.2:c.3472_3477dup	XP_011539812.1:p.Glu1159_Ala1160insArgGlu
XM_011541511.2:c.3395+328_3395+333dup	XP_011539813.1:n.3395+328_3395+333dup
XM_017001358.1:c.3598_3603dup	XP_016856847.1:p.Glu1201_Ala1202insArgGlu
XM_017001359.1:c.3598_3603dup	XP_016856848.1:p.Glu1201_Ala1202insArgGlu
NM_001042681.2:c.3598_3603dup MANE Select	NP_001036146.1:p.Glu1201_Ala1202insArgGlu
NM_001042682.2:c.1936_1941dup	NP_001036147.1:p.Glu647_Ala648insArgGlu
NM_012102.4:c.3598_3603dup	NP_036234.3:p.Glu1201_Ala1202insArgGlu