Canonical Allele Identifier: CA739603311

Gene: RERE

Linked Data

• dbSNP Id: rs1457617670
• gnomAD v3: 1-8359819-TTCTCCTTCTCCC-T
• gnomAD v4: 1-8359819-TTCTCCTTCTCCC-T
• MyVariant Identifiers: chr1:g.8419880_8419891del (hg19) ; chr1:g.8359820_8359831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359820_8359831del , CM000663.2:g.8359820_8359831del	GRCh38
NC_000001.10:g.8419880_8419891del , CM000663.1:g.8419880_8419891del	GRCh37
NC_000001.9:g.8342467_8342478del	NCBI36
NG_047035.1:g.462861_462872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1889_1900del	ENSP00000515651.1:p.Arg630_Lys634delinsGln
ENST00000400908.7:c.3551_3562del MANE Select	ENSP00000383700.2:p.Arg1184_Lys1188delinsGln
ENST00000337907.7:c.3551_3562del	ENSP00000338629.3:p.Arg1184_Lys1188delinsGln
ENST00000377464.5:c.2747_2758del	ENSP00000366684.1:p.Arg916_Lys920delinsGln
ENST00000400907.6:c.1541-4232_1541-4221del	ENSP00000383699.2:n.1541-4232_1541-4221del
ENST00000400908.6:c.3551_3562del	ENSP00000383700.2:p.Arg1184_Lys1188delinsGln
ENST00000476556.5:c.1889_1900del	ENSP00000422246.1:p.Arg630_Lys634delinsGln
ENST00000505225.1:c.307+1629_307+1640del	ENSP00000423451.1:n.307+1629_307+1640del
NM_001042681.1:c.3551_3562del	NP_001036146.1:p.Arg1184_Lys1188delinsGln
NM_001042682.1:c.1889_1900del	NP_001036147.1:p.Arg630_Lys634delinsGln
NM_012102.3:c.3551_3562del	NP_036234.3:p.Arg1184_Lys1188delinsGln
XM_005263464.1:c.3551_3562del	XP_005263521.1:p.Arg1184_Lys1188delinsGln
XM_005263466.1:c.2747_2758del	XP_005263523.1:p.Arg916_Lys920delinsGln
XM_006710653.1:c.3551_3562del	XP_006710716.1:p.Arg1184_Lys1188delinsGln
XM_011541510.1:c.3425_3436del	XP_011539812.1:p.Arg1142_Lys1146delinsGln
XM_011541511.1:c.3395+281_3395+292del	XP_011539813.1:n.3395+281_3395+292del
XM_005263464.2:c.3551_3562del	XP_005263521.1:p.Arg1184_Lys1188delinsGln
XM_011541510.2:c.3425_3436del	XP_011539812.1:p.Arg1142_Lys1146delinsGln
XM_011541511.2:c.3395+281_3395+292del	XP_011539813.1:n.3395+281_3395+292del
XM_017001358.1:c.3551_3562del	XP_016856847.1:p.Arg1184_Lys1188delinsGln
XM_017001359.1:c.3551_3562del	XP_016856848.1:p.Arg1184_Lys1188delinsGln
NM_001042681.2:c.3551_3562del MANE Select	NP_001036146.1:p.Arg1184_Lys1188delinsGln
NM_001042682.2:c.1889_1900del	NP_001036147.1:p.Arg630_Lys634delinsGln
NM_012102.4:c.3551_3562del	NP_036234.3:p.Arg1184_Lys1188delinsGln