Canonical Allele Identifier: CA2643066253

Gene: RERE

Linked Data

• gnomAD v4: 1-8359784-G-GCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359801_8359842dup , CM000663.2:g.8359801_8359842dup	GRCh38
NC_000001.10:g.8419861_8419902dup , CM000663.1:g.8419861_8419902dup	GRCh37
NC_000001.9:g.8342448_8342489dup	NCBI36
NG_047035.1:g.462866_462907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1894_1935dup	ENSP00000515651.1:p.Glu645_Arg646insLysGluLysGluLysGluArgGluA...
ENST00000400908.7:c.3556_3597dup MANE Select	ENSP00000383700.2:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGl...
ENST00000337907.7:c.3556_3597dup	ENSP00000338629.3:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGl...
ENST00000377464.5:c.2752_2793dup	ENSP00000366684.1:p.Glu931_Arg932insLysGluLysGluLysGluArgGluA...
ENST00000400907.6:c.1541-4227_1541-4186dup	ENSP00000383699.2:n.1541-4227_1541-4186dup
ENST00000400908.6:c.3556_3597dup	ENSP00000383700.2:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGl...
ENST00000476556.5:c.1894_1935dup	ENSP00000422246.1:p.Glu645_Arg646insLysGluLysGluLysGluArgGluA...
ENST00000505225.1:c.307+1634_307+1675dup	ENSP00000423451.1:n.307+1634_307+1675dup
NM_001042681.1:c.3556_3597dup	NP_001036146.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
NM_001042682.1:c.1894_1935dup	NP_001036147.1:p.Glu645_Arg646insLysGluLysGluLysGluArgGluArgG...
NM_012102.3:c.3556_3597dup	NP_036234.3:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluArgGl...
XM_005263464.1:c.3556_3597dup	XP_005263521.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
XM_005263466.1:c.2752_2793dup	XP_005263523.1:p.Glu931_Arg932insLysGluLysGluLysGluArgGluArgG...
XM_006710653.1:c.3556_3597dup	XP_006710716.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
XM_011541510.1:c.3430_3471dup	XP_011539812.1:p.Glu1157_Arg1158insLysGluLysGluLysGluArgGluAr...
XM_011541511.1:c.3395+286_3395+327dup	XP_011539813.1:n.3395+286_3395+327dup
XM_005263464.2:c.3556_3597dup	XP_005263521.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
XM_011541510.2:c.3430_3471dup	XP_011539812.1:p.Glu1157_Arg1158insLysGluLysGluLysGluArgGluAr...
XM_011541511.2:c.3395+286_3395+327dup	XP_011539813.1:n.3395+286_3395+327dup
XM_017001358.1:c.3556_3597dup	XP_016856847.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
XM_017001359.1:c.3556_3597dup	XP_016856848.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
NM_001042681.2:c.3556_3597dup MANE Select	NP_001036146.1:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluAr...
NM_001042682.2:c.1894_1935dup	NP_001036147.1:p.Glu645_Arg646insLysGluLysGluLysGluArgGluArgG...
NM_012102.4:c.3556_3597dup	NP_036234.3:p.Glu1199_Arg1200insLysGluLysGluLysGluArgGluArgGl...