Canonical Allele Identifier: CA2643066255

Gene: RERE

Linked Data

• gnomAD v4: 1-8359788-C-CCGTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359790_8359791insTTCTCG , CM000663.2:g.8359790_8359791insTTCTCG	GRCh38
NC_000001.10:g.8419850_8419851insTTCTCG , CM000663.1:g.8419850_8419851insTTCTCG	GRCh37
NC_000001.9:g.8342437_8342438insTTCTCG	NCBI36
NG_047035.1:g.462903_462904insAGAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1931_1932insAGAACG	ENSP00000515651.1:p.Arg644_Glu645insGluArg
ENST00000400908.7:c.3593_3594insAGAACG MANE Select	ENSP00000383700.2:p.Arg1198_Glu1199insGluArg
ENST00000337907.7:c.3593_3594insAGAACG	ENSP00000338629.3:p.Arg1198_Glu1199insGluArg
ENST00000377464.5:c.2789_2790insAGAACG	ENSP00000366684.1:p.Arg930_Glu931insGluArg
ENST00000400907.6:c.1541-4190_1541-4189insAGAACG	ENSP00000383699.2:n.1541-4190_1541-4189insAGAACG
ENST00000400908.6:c.3593_3594insAGAACG	ENSP00000383700.2:p.Arg1198_Glu1199insGluArg
ENST00000476556.5:c.1931_1932insAGAACG	ENSP00000422246.1:p.Arg644_Glu645insGluArg
ENST00000505225.1:c.307+1671_307+1672insAGAACG	ENSP00000423451.1:n.307+1671_307+1672insAGAACG
NM_001042681.1:c.3593_3594insAGAACG	NP_001036146.1:p.Arg1198_Glu1199insGluArg
NM_001042682.1:c.1931_1932insAGAACG	NP_001036147.1:p.Arg644_Glu645insGluArg
NM_012102.3:c.3593_3594insAGAACG	NP_036234.3:p.Arg1198_Glu1199insGluArg
XM_005263464.1:c.3593_3594insAGAACG	XP_005263521.1:p.Arg1198_Glu1199insGluArg
XM_005263466.1:c.2789_2790insAGAACG	XP_005263523.1:p.Arg930_Glu931insGluArg
XM_006710653.1:c.3593_3594insAGAACG	XP_006710716.1:p.Arg1198_Glu1199insGluArg
XM_011541510.1:c.3467_3468insAGAACG	XP_011539812.1:p.Arg1156_Glu1157insGluArg
XM_011541511.1:c.3395+323_3395+324insAGAACG	XP_011539813.1:n.3395+323_3395+324insAGAACG
XM_005263464.2:c.3593_3594insAGAACG	XP_005263521.1:p.Arg1198_Glu1199insGluArg
XM_011541510.2:c.3467_3468insAGAACG	XP_011539812.1:p.Arg1156_Glu1157insGluArg
XM_011541511.2:c.3395+323_3395+324insAGAACG	XP_011539813.1:n.3395+323_3395+324insAGAACG
XM_017001358.1:c.3593_3594insAGAACG	XP_016856847.1:p.Arg1198_Glu1199insGluArg
XM_017001359.1:c.3593_3594insAGAACG	XP_016856848.1:p.Arg1198_Glu1199insGluArg
NM_001042681.2:c.3593_3594insAGAACG MANE Select	NP_001036146.1:p.Arg1198_Glu1199insGluArg
NM_001042682.2:c.1931_1932insAGAACG	NP_001036147.1:p.Arg644_Glu645insGluArg
NM_012102.4:c.3593_3594insAGAACG	NP_036234.3:p.Arg1198_Glu1199insGluArg