Canonical Allele Identifier: CA571090

Gene: RERE

Linked Data

• ClinVar Variation Id: 2071029
• ClinVar RCV Id: RCV002959246 ; RCV003963510
• dbSNP Id: rs769497707
• ExAC: 1:8419848 CCGCTCT / C
• gnomAD v2: 1-8419848-CCGCTCT-C
• gnomAD v3: 1-8359788-CCGCTCT-C
• gnomAD v4: 1-8359788-CCGCTCT-C
• COSMIC: COSM4612598
• MyVariant Identifiers: chr1:g.8419849_8419854del (hg19) ; chr1:g.8359790_8359795del (hg38) ; chr1:g.8359789_8359794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359794_8359799del , CM000663.2:g.8359794_8359799del	GRCh38
NC_000001.10:g.8419854_8419859del , CM000663.1:g.8419854_8419859del	GRCh37
NC_000001.9:g.8342441_8342446del	NCBI36
NG_047035.1:g.462898_462903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1926_1931del	ENSP00000515651.1:p.Glu643_Arg644del
ENST00000400908.7:c.3588_3593del MANE Select	ENSP00000383700.2:p.Glu1197_Arg1198del
ENST00000337907.7:c.3588_3593del	ENSP00000338629.3:p.Glu1197_Arg1198del
ENST00000377464.5:c.2784_2789del	ENSP00000366684.1:p.Glu929_Arg930del
ENST00000400907.6:c.1541-4195_1541-4190del	ENSP00000383699.2:n.1541-4195_1541-4190del
ENST00000400908.6:c.3588_3593del	ENSP00000383700.2:p.Glu1197_Arg1198del
ENST00000476556.5:c.1926_1931del	ENSP00000422246.1:p.Glu643_Arg644del
ENST00000505225.1:c.307+1666_307+1671del	ENSP00000423451.1:n.307+1666_307+1671del
NM_001042681.1:c.3588_3593del	NP_001036146.1:p.Glu1197_Arg1198del
NM_001042682.1:c.1926_1931del	NP_001036147.1:p.Glu643_Arg644del
NM_012102.3:c.3588_3593del	NP_036234.3:p.Glu1197_Arg1198del
XM_005263464.1:c.3588_3593del	XP_005263521.1:p.Glu1197_Arg1198del
XM_005263466.1:c.2784_2789del	XP_005263523.1:p.Glu929_Arg930del
XM_006710653.1:c.3588_3593del	XP_006710716.1:p.Glu1197_Arg1198del
XM_011541510.1:c.3462_3467del	XP_011539812.1:p.Glu1155_Arg1156del
XM_011541511.1:c.3395+318_3395+323del	XP_011539813.1:n.3395+318_3395+323del
XM_005263464.2:c.3588_3593del	XP_005263521.1:p.Glu1197_Arg1198del
XM_011541510.2:c.3462_3467del	XP_011539812.1:p.Glu1155_Arg1156del
XM_011541511.2:c.3395+318_3395+323del	XP_011539813.1:n.3395+318_3395+323del
XM_017001358.1:c.3588_3593del	XP_016856847.1:p.Glu1197_Arg1198del
XM_017001359.1:c.3588_3593del	XP_016856848.1:p.Glu1197_Arg1198del
NM_001042681.2:c.3588_3593del MANE Select	NP_001036146.1:p.Glu1197_Arg1198del
NM_001042682.2:c.1926_1931del	NP_001036147.1:p.Glu643_Arg644del
NM_012102.4:c.3588_3593del	NP_036234.3:p.Glu1197_Arg1198del