Canonical Allele Identifier: CA571114

Gene: RERE

Linked Data

• dbSNP Id: rs751727155
• ExAC: 1:8419885 TTCTCCC / T
• gnomAD v2: 1-8419885-TTCTCCC-T
• gnomAD v4: 1-8359825-TTCTCCC-T
• MyVariant Identifiers: chr1:g.8419886_8419891del (hg19) ; chr1:g.8359826_8359831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359826_8359831del , CM000663.2:g.8359826_8359831del	GRCh38
NC_000001.10:g.8419886_8419891del , CM000663.1:g.8419886_8419891del	GRCh37
NC_000001.9:g.8342473_8342478del	NCBI36
NG_047035.1:g.462861_462866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1889_1894del	ENSP00000515651.1:p.Arg630_Lys632delinsGln
ENST00000400908.7:c.3551_3556del MANE Select	ENSP00000383700.2:p.Arg1184_Lys1186delinsGln
ENST00000337907.7:c.3551_3556del	ENSP00000338629.3:p.Arg1184_Lys1186delinsGln
ENST00000377464.5:c.2747_2752del	ENSP00000366684.1:p.Arg916_Lys918delinsGln
ENST00000400907.6:c.1541-4232_1541-4227del	ENSP00000383699.2:n.1541-4232_1541-4227del
ENST00000400908.6:c.3551_3556del	ENSP00000383700.2:p.Arg1184_Lys1186delinsGln
ENST00000476556.5:c.1889_1894del	ENSP00000422246.1:p.Arg630_Lys632delinsGln
ENST00000505225.1:c.307+1629_307+1634del	ENSP00000423451.1:n.307+1629_307+1634del
NM_001042681.1:c.3551_3556del	NP_001036146.1:p.Arg1184_Lys1186delinsGln
NM_001042682.1:c.1889_1894del	NP_001036147.1:p.Arg630_Lys632delinsGln
NM_012102.3:c.3551_3556del	NP_036234.3:p.Arg1184_Lys1186delinsGln
XM_005263464.1:c.3551_3556del	XP_005263521.1:p.Arg1184_Lys1186delinsGln
XM_005263466.1:c.2747_2752del	XP_005263523.1:p.Arg916_Lys918delinsGln
XM_006710653.1:c.3551_3556del	XP_006710716.1:p.Arg1184_Lys1186delinsGln
XM_011541510.1:c.3425_3430del	XP_011539812.1:p.Arg1142_Lys1144delinsGln
XM_011541511.1:c.3395+281_3395+286del	XP_011539813.1:n.3395+281_3395+286del
XM_005263464.2:c.3551_3556del	XP_005263521.1:p.Arg1184_Lys1186delinsGln
XM_011541510.2:c.3425_3430del	XP_011539812.1:p.Arg1142_Lys1144delinsGln
XM_011541511.2:c.3395+281_3395+286del	XP_011539813.1:n.3395+281_3395+286del
XM_017001358.1:c.3551_3556del	XP_016856847.1:p.Arg1184_Lys1186delinsGln
XM_017001359.1:c.3551_3556del	XP_016856848.1:p.Arg1184_Lys1186delinsGln
NM_001042681.2:c.3551_3556del MANE Select	NP_001036146.1:p.Arg1184_Lys1186delinsGln
NM_001042682.2:c.1889_1894del	NP_001036147.1:p.Arg630_Lys632delinsGln
NM_012102.4:c.3551_3556del	NP_036234.3:p.Arg1184_Lys1186delinsGln