Canonical Allele Identifier: CA2643066265

Gene: RERE

Linked Data

• gnomAD v4: 1-8359825-TTCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359826_8359830del , CM000663.2:g.8359826_8359830del	GRCh38
NC_000001.10:g.8419886_8419890del , CM000663.1:g.8419886_8419890del	GRCh37
NC_000001.9:g.8342473_8342477del	NCBI36
NG_047035.1:g.462862_462866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1890_1894del	ENSP00000515651.1:p.Glu631GlyfsTer21
ENST00000400908.7:c.3552_3556del MANE Select	ENSP00000383700.2:p.Glu1185GlyfsTer21
ENST00000337907.7:c.3552_3556del	ENSP00000338629.3:p.Glu1185GlyfsTer21
ENST00000377464.5:c.2748_2752del	ENSP00000366684.1:p.Glu917GlyfsTer21
ENST00000400907.6:c.1541-4231_1541-4227del	ENSP00000383699.2:n.1541-4231_1541-4227del
ENST00000400908.6:c.3552_3556del	ENSP00000383700.2:p.Glu1185GlyfsTer21
ENST00000476556.5:c.1890_1894del	ENSP00000422246.1:p.Glu631GlyfsTer21
ENST00000505225.1:c.307+1630_307+1634del	ENSP00000423451.1:n.307+1630_307+1634del
NM_001042681.1:c.3552_3556del	NP_001036146.1:p.Glu1185GlyfsTer21
NM_001042682.1:c.1890_1894del	NP_001036147.1:p.Glu631GlyfsTer21
NM_012102.3:c.3552_3556del	NP_036234.3:p.Glu1185GlyfsTer21
XM_005263464.1:c.3552_3556del	XP_005263521.1:p.Glu1185GlyfsTer21
XM_005263466.1:c.2748_2752del	XP_005263523.1:p.Glu917GlyfsTer21
XM_006710653.1:c.3552_3556del	XP_006710716.1:p.Glu1185GlyfsTer21
XM_011541510.1:c.3426_3430del	XP_011539812.1:p.Glu1143GlyfsTer21
XM_011541511.1:c.3395+282_3395+286del	XP_011539813.1:n.3395+282_3395+286del
XM_005263464.2:c.3552_3556del	XP_005263521.1:p.Glu1185GlyfsTer21
XM_011541510.2:c.3426_3430del	XP_011539812.1:p.Glu1143GlyfsTer21
XM_011541511.2:c.3395+282_3395+286del	XP_011539813.1:n.3395+282_3395+286del
XM_017001358.1:c.3552_3556del	XP_016856847.1:p.Glu1185GlyfsTer21
XM_017001359.1:c.3552_3556del	XP_016856848.1:p.Glu1185GlyfsTer21
NM_001042681.2:c.3552_3556del MANE Select	NP_001036146.1:p.Glu1185GlyfsTer21
NM_001042682.2:c.1890_1894del	NP_001036147.1:p.Glu631GlyfsTer21
NM_012102.4:c.3552_3556del	NP_036234.3:p.Glu1185GlyfsTer21