Canonical Allele Identifier: CA1148433708

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359783_8359793delinsCGCTCCCGCTC , CM000663.2:g.8359783_8359793delinsCGCTCCCGCTC	GRCh38
NC_000001.10:g.8419843_8419853delinsCGCTCCCGCTC , CM000663.1:g.8419843_8419853delinsCGCTCCCGCTC	GRCh37
NC_000001.9:g.8342430_8342440delinsCGCTCCCGCTC	NCBI36
NG_047035.1:g.462899_462909delinsGAGCGGGAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1927_1937delinsGAGCGGGAGCG	ENSP00000515651.1:p.Glu643=
ENST00000400908.7:c.3589_3599delinsGAGCGGGAGCG MANE Select	ENSP00000383700.2:p.Glu1197=
ENST00000337907.7:c.3589_3599delinsGAGCGGGAGCG	ENSP00000338629.3:p.Glu1197=
ENST00000377464.5:c.2785_2795delinsGAGCGGGAGCG	ENSP00000366684.1:p.Glu929=
ENST00000400907.6:c.1541-4194_1541-4184delinsGAGCGGGAGCG	ENSP00000383699.2:n.1541-4194_1541-4184delinsGAGCGGGAGCG
ENST00000400908.6:c.3589_3599delinsGAGCGGGAGCG	ENSP00000383700.2:p.Glu1197=
ENST00000476556.5:c.1927_1937delinsGAGCGGGAGCG	ENSP00000422246.1:p.Glu643=
ENST00000505225.1:c.307+1667_307+1677delinsGAGCGGGAGCG	ENSP00000423451.1:n.307+1667_307+1677delinsGAGCGGGAGCG
NM_001042681.1:c.3589_3599delinsGAGCGGGAGCG	NP_001036146.1:p.Glu1197=
NM_001042682.1:c.1927_1937delinsGAGCGGGAGCG	NP_001036147.1:p.Glu643=
NM_012102.3:c.3589_3599delinsGAGCGGGAGCG	NP_036234.3:p.Glu1197=
XM_005263464.1:c.3589_3599delinsGAGCGGGAGCG	XP_005263521.1:p.Glu1197=
XM_005263466.1:c.2785_2795delinsGAGCGGGAGCG	XP_005263523.1:p.Glu929=
XM_006710653.1:c.3589_3599delinsGAGCGGGAGCG	XP_006710716.1:p.Glu1197=
XM_011541510.1:c.3463_3473delinsGAGCGGGAGCG	XP_011539812.1:p.Glu1155=
XM_011541511.1:c.3395+319_3395+329delinsGAGCGGGAGCG	XP_011539813.1:n.3395+319_3395+329delinsGAGCGGGAGCG
XM_005263464.2:c.3589_3599delinsGAGCGGGAGCG	XP_005263521.1:p.Glu1197=
XM_011541510.2:c.3463_3473delinsGAGCGGGAGCG	XP_011539812.1:p.Glu1155=
XM_011541511.2:c.3395+319_3395+329delinsGAGCGGGAGCG	XP_011539813.1:n.3395+319_3395+329delinsGAGCGGGAGCG
XM_017001358.1:c.3589_3599delinsGAGCGGGAGCG	XP_016856847.1:p.Glu1197=
XM_017001359.1:c.3589_3599delinsGAGCGGGAGCG	XP_016856848.1:p.Glu1197=
NM_001042681.2:c.3589_3599delinsGAGCGGGAGCG MANE Select	NP_001036146.1:p.Glu1197=
NM_001042682.2:c.1927_1937delinsGAGCGGGAGCG	NP_001036147.1:p.Glu643=
NM_012102.4:c.3589_3599delinsGAGCGGGAGCG	NP_036234.3:p.Glu1197=