Canonical Allele Identifier: CA571096

Gene: RERE

Linked Data

• ClinVar Variation Id: 1659966
• ClinVar RCV Id: RCV002181181 ; RCV003951299
• dbSNP Id: rs201570536
• ExAC: 1:8419854 TCGCTCC / T
• gnomAD v2: 1-8419854-TCGCTCC-T
• gnomAD v3: 1-8359794-TCGCTCC-T
• gnomAD v4: 1-8359794-TCGCTCC-T
• MyVariant Identifiers: chr1:g.8419861_8419866del (hg19) ; chr1:g.8419855_8419860del (hg19) ; chr1:g.8359801_8359806del (hg38) ; chr1:g.8359795_8359800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359807_8359812del , CM000663.2:g.8359807_8359812del	GRCh38
NC_000001.10:g.8419867_8419872del , CM000663.1:g.8419867_8419872del	GRCh37
NC_000001.9:g.8342454_8342459del	NCBI36
NG_047035.1:g.462892_462897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1920_1925del	ENSP00000515651.1:p.Glu641_Arg642del
ENST00000400908.7:c.3582_3587del MANE Select	ENSP00000383700.2:p.Glu1195_Arg1196del
ENST00000337907.7:c.3582_3587del	ENSP00000338629.3:p.Glu1195_Arg1196del
ENST00000377464.5:c.2778_2783del	ENSP00000366684.1:p.Glu927_Arg928del
ENST00000400907.6:c.1541-4201_1541-4196del	ENSP00000383699.2:n.1541-4201_1541-4196del
ENST00000400908.6:c.3582_3587del	ENSP00000383700.2:p.Glu1195_Arg1196del
ENST00000476556.5:c.1920_1925del	ENSP00000422246.1:p.Glu641_Arg642del
ENST00000505225.1:c.307+1660_307+1665del	ENSP00000423451.1:n.307+1660_307+1665del
NM_001042681.1:c.3582_3587del	NP_001036146.1:p.Glu1195_Arg1196del
NM_001042682.1:c.1920_1925del	NP_001036147.1:p.Glu641_Arg642del
NM_012102.3:c.3582_3587del	NP_036234.3:p.Glu1195_Arg1196del
XM_005263464.1:c.3582_3587del	XP_005263521.1:p.Glu1195_Arg1196del
XM_005263466.1:c.2778_2783del	XP_005263523.1:p.Glu927_Arg928del
XM_006710653.1:c.3582_3587del	XP_006710716.1:p.Glu1195_Arg1196del
XM_011541510.1:c.3456_3461del	XP_011539812.1:p.Glu1153_Arg1154del
XM_011541511.1:c.3395+312_3395+317del	XP_011539813.1:n.3395+312_3395+317del
XM_005263464.2:c.3582_3587del	XP_005263521.1:p.Glu1195_Arg1196del
XM_011541510.2:c.3456_3461del	XP_011539812.1:p.Glu1153_Arg1154del
XM_011541511.2:c.3395+312_3395+317del	XP_011539813.1:n.3395+312_3395+317del
XM_017001358.1:c.3582_3587del	XP_016856847.1:p.Glu1195_Arg1196del
XM_017001359.1:c.3582_3587del	XP_016856848.1:p.Glu1195_Arg1196del
NM_001042681.2:c.3582_3587del MANE Select	NP_001036146.1:p.Glu1195_Arg1196del
NM_001042682.2:c.1920_1925del	NP_001036147.1:p.Glu641_Arg642del
NM_012102.4:c.3582_3587del	NP_036234.3:p.Glu1195_Arg1196del