Canonical Allele Identifier: CA521020056

Gene: RERE

Linked Data

• ClinVar Variation Id: 633541
• ClinVar RCV Id: RCV000782049 ; RCV004027331
• dbSNP Id: rs745806637
• gnomAD v2: 1-8420317-A-AC
• gnomAD v3: 1-8360257-A-AC
• gnomAD v4: 1-8360257-A-AC
• MyVariant Identifiers: chr1:g.8420318_8420319insC (hg19) ; chr1:g.8420317_8420318insC (hg19) ; chr1:g.8360258_8360259insC (hg38) ; chr1:g.8360257_8360258insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360264dup , CM000663.2:g.8360264dup	GRCh38
NC_000001.10:g.8420324dup , CM000663.1:g.8420324dup	GRCh37
NC_000001.9:g.8342911dup	NCBI36
NG_047035.1:g.462434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1587dup	ENSP00000515651.1:p.Ser530ValfsTer19
ENST00000400908.7:c.3249dup MANE Select	ENSP00000383700.2:p.Ser1084ValfsTer19
ENST00000337907.7:c.3249dup	ENSP00000338629.3:p.Ser1084ValfsTer19
ENST00000377464.5:c.2445dup	ENSP00000366684.1:p.Ser816ValfsTer19
ENST00000400907.6:c.1540+4488dup	ENSP00000383699.2:n.1540+4488dup
ENST00000400908.6:c.3249dup	ENSP00000383700.2:p.Ser1084ValfsTer19
ENST00000476556.5:c.1587dup	ENSP00000422246.1:p.Ser530ValfsTer19
ENST00000505225.1:c.307+1202dup	ENSP00000423451.1:n.307+1202dup
NM_001042681.1:c.3249dup	NP_001036146.1:p.Ser1084ValfsTer19
NM_001042682.1:c.1587dup	NP_001036147.1:p.Ser530ValfsTer19
NM_012102.3:c.3249dup	NP_036234.3:p.Ser1084ValfsTer19
XM_005263464.1:c.3249dup	XP_005263521.1:p.Ser1084ValfsTer19
XM_005263466.1:c.2445dup	XP_005263523.1:p.Ser816ValfsTer19
XM_006710653.1:c.3249dup	XP_006710716.1:p.Ser1084ValfsTer19
XM_011541510.1:c.3123dup	XP_011539812.1:p.Ser1042ValfsTer19
XM_011541511.1:c.3249dup	XP_011539813.1:p.Ser1084ValfsTer19
XM_005263464.2:c.3249dup	XP_005263521.1:p.Ser1084ValfsTer19
XM_011541510.2:c.3123dup	XP_011539812.1:p.Ser1042ValfsTer19
XM_011541511.2:c.3249dup	XP_011539813.1:p.Ser1084ValfsTer19
XM_017001358.1:c.3249dup	XP_016856847.1:p.Ser1084ValfsTer19
XM_017001359.1:c.3249dup	XP_016856848.1:p.Ser1084ValfsTer19
NM_001042681.2:c.3249dup MANE Select	NP_001036146.1:p.Ser1084ValfsTer19
NM_001042682.2:c.1587dup	NP_001036147.1:p.Ser530ValfsTer19
NM_012102.4:c.3249dup	NP_036234.3:p.Ser1084ValfsTer19