Canonical Allele Identifier: CA17694757

Gene: RERE

Linked Data

• dbSNP Id: rs943820825
• gnomAD v3: 1-8360217-GCCT-G
• gnomAD v4: 1-8360217-GCCT-G
• MyVariant Identifiers: chr1:g.8420278_8420280del (hg19) ; chr1:g.8360218_8360220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360224_8360226del , CM000663.2:g.8360224_8360226del	GRCh38
NC_000001.10:g.8420284_8420286del , CM000663.1:g.8420284_8420286del	GRCh37
NC_000001.9:g.8342871_8342873del	NCBI36
NG_047035.1:g.462472_462474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1625_1627del	ENSP00000515651.1:p.Glu542del
ENST00000400908.7:c.3287_3289del MANE Select	ENSP00000383700.2:p.Glu1096del
ENST00000337907.7:c.3287_3289del	ENSP00000338629.3:p.Glu1096del
ENST00000377464.5:c.2483_2485del	ENSP00000366684.1:p.Glu828del
ENST00000400907.6:c.1540+4526_1540+4528del	ENSP00000383699.2:n.1540+4526_1540+4528del
ENST00000400908.6:c.3287_3289del	ENSP00000383700.2:p.Glu1096del
ENST00000476556.5:c.1625_1627del	ENSP00000422246.1:p.Glu542del
ENST00000505225.1:c.307+1240_307+1242del	ENSP00000423451.1:n.307+1240_307+1242del
NM_001042681.1:c.3287_3289del	NP_001036146.1:p.Glu1096del
NM_001042682.1:c.1625_1627del	NP_001036147.1:p.Glu542del
NM_012102.3:c.3287_3289del	NP_036234.3:p.Glu1096del
XM_005263464.1:c.3287_3289del	XP_005263521.1:p.Glu1096del
XM_005263466.1:c.2483_2485del	XP_005263523.1:p.Glu828del
XM_006710653.1:c.3287_3289del	XP_006710716.1:p.Glu1096del
XM_011541510.1:c.3161_3163del	XP_011539812.1:p.Glu1054del
XM_011541511.1:c.3287_3289del	XP_011539813.1:p.Glu1096del
XM_005263464.2:c.3287_3289del	XP_005263521.1:p.Glu1096del
XM_011541510.2:c.3161_3163del	XP_011539812.1:p.Glu1054del
XM_011541511.2:c.3287_3289del	XP_011539813.1:p.Glu1096del
XM_017001358.1:c.3287_3289del	XP_016856847.1:p.Glu1096del
XM_017001359.1:c.3287_3289del	XP_016856848.1:p.Glu1096del
NM_001042681.2:c.3287_3289del MANE Select	NP_001036146.1:p.Glu1096del
NM_001042682.2:c.1625_1627del	NP_001036147.1:p.Glu542del
NM_012102.4:c.3287_3289del	NP_036234.3:p.Glu1096del