Canonical Allele Identifier: CA571080

Gene: RERE

Linked Data

• ClinVar Variation Id: 782354
• ClinVar RCV Id: RCV000963734 ; RCV003978409
• dbSNP Id: rs778061502
• ExAC: 1:8419842 GCGCTCCCGCTCT / G
• gnomAD v2: 1-8419842-GCGCTCCCGCTCT-G
• gnomAD v3: 1-8359782-GCGCTCCCGCTCT-G
• gnomAD v4: 1-8359782-GCGCTCCCGCTCT-G
• MyVariant Identifiers: chr1:g.8419849_8419860del (hg19) ; chr1:g.8419843_8419854del (hg19) ; chr1:g.8359789_8359800del (hg38) ; chr1:g.8359783_8359794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359794_8359805del , CM000663.2:g.8359794_8359805del	GRCh38
NC_000001.10:g.8419854_8419865del , CM000663.1:g.8419854_8419865del	GRCh37
NC_000001.9:g.8342441_8342452del	NCBI36
NG_047035.1:g.462898_462909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1926_1937del	ENSP00000515651.1:p.Glu643_Arg646del
ENST00000400908.7:c.3588_3599del MANE Select	ENSP00000383700.2:p.Glu1197_Arg1200del
ENST00000337907.7:c.3588_3599del	ENSP00000338629.3:p.Glu1197_Arg1200del
ENST00000377464.5:c.2784_2795del	ENSP00000366684.1:p.Glu929_Arg932del
ENST00000400907.6:c.1541-4195_1541-4184del	ENSP00000383699.2:n.1541-4195_1541-4184del
ENST00000400908.6:c.3588_3599del	ENSP00000383700.2:p.Glu1197_Arg1200del
ENST00000476556.5:c.1926_1937del	ENSP00000422246.1:p.Glu643_Arg646del
ENST00000505225.1:c.307+1666_307+1677del	ENSP00000423451.1:n.307+1666_307+1677del
NM_001042681.1:c.3588_3599del	NP_001036146.1:p.Glu1197_Arg1200del
NM_001042682.1:c.1926_1937del	NP_001036147.1:p.Glu643_Arg646del
NM_012102.3:c.3588_3599del	NP_036234.3:p.Glu1197_Arg1200del
XM_005263464.1:c.3588_3599del	XP_005263521.1:p.Glu1197_Arg1200del
XM_005263466.1:c.2784_2795del	XP_005263523.1:p.Glu929_Arg932del
XM_006710653.1:c.3588_3599del	XP_006710716.1:p.Glu1197_Arg1200del
XM_011541510.1:c.3462_3473del	XP_011539812.1:p.Glu1155_Arg1158del
XM_011541511.1:c.3395+318_3395+329del	XP_011539813.1:n.3395+318_3395+329del
XM_005263464.2:c.3588_3599del	XP_005263521.1:p.Glu1197_Arg1200del
XM_011541510.2:c.3462_3473del	XP_011539812.1:p.Glu1155_Arg1158del
XM_011541511.2:c.3395+318_3395+329del	XP_011539813.1:n.3395+318_3395+329del
XM_017001358.1:c.3588_3599del	XP_016856847.1:p.Glu1197_Arg1200del
XM_017001359.1:c.3588_3599del	XP_016856848.1:p.Glu1197_Arg1200del
NM_001042681.2:c.3588_3599del MANE Select	NP_001036146.1:p.Glu1197_Arg1200del
NM_001042682.2:c.1926_1937del	NP_001036147.1:p.Glu643_Arg646del
NM_012102.4:c.3588_3599del	NP_036234.3:p.Glu1197_Arg1200del