Canonical Allele Identifier: CA1143491252

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359795_8359812delinsCGCTCCCGCTCCCGCTCC , CM000663.2:g.8359795_8359812delinsCGCTCCCGCTCCCGCTCC	GRCh38
NC_000001.10:g.8419855_8419872delinsCGCTCCCGCTCCCGCTCC , CM000663.1:g.8419855_8419872delinsCGCTCCCGCTCCCGCTCC	GRCh37
NC_000001.9:g.8342442_8342459delinsCGCTCCCGCTCCCGCTCC	NCBI36
NG_047035.1:g.462880_462897delinsGGAGCGGGAGCGGGAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1908_1925delinsGGAGCGGGAGCGGGAGCG	ENSP00000515651.1:p.Lys636=
ENST00000400908.7:c.3570_3587delinsGGAGCGGGAGCGGGAGCG MANE Select	ENSP00000383700.2:p.Lys1190=
ENST00000337907.7:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	ENSP00000338629.3:p.Lys1190=
ENST00000377464.5:c.2766_2783delinsGGAGCGGGAGCGGGAGCG	ENSP00000366684.1:p.Lys922=
ENST00000400907.6:c.1541-4213_1541-4196delinsGGAGCGGGAGCGGGAGCG	ENSP00000383699.2:n.1541-4213_1541-4196delinsGGAGCGGGAGCGGGAG...
ENST00000400908.6:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	ENSP00000383700.2:p.Lys1190=
ENST00000476556.5:c.1908_1925delinsGGAGCGGGAGCGGGAGCG	ENSP00000422246.1:p.Lys636=
ENST00000505225.1:c.307+1648_307+1665delinsGGAGCGGGAGCGGGAGCG	ENSP00000423451.1:n.307+1648_307+1665delinsGGAGCGGGAGCGGGAGCG...
NM_001042681.1:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	NP_001036146.1:p.Lys1190=
NM_001042682.1:c.1908_1925delinsGGAGCGGGAGCGGGAGCG	NP_001036147.1:p.Lys636=
NM_012102.3:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	NP_036234.3:p.Lys1190=
XM_005263464.1:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	XP_005263521.1:p.Lys1190=
XM_005263466.1:c.2766_2783delinsGGAGCGGGAGCGGGAGCG	XP_005263523.1:p.Lys922=
XM_006710653.1:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	XP_006710716.1:p.Lys1190=
XM_011541510.1:c.3444_3461delinsGGAGCGGGAGCGGGAGCG	XP_011539812.1:p.Lys1148=
XM_011541511.1:c.3395+300_3395+317delinsGGAGCGGGAGCGGGAGCG	XP_011539813.1:n.3395+300_3395+317delinsGGAGCGGGAGCGGGAGCG
XM_005263464.2:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	XP_005263521.1:p.Lys1190=
XM_011541510.2:c.3444_3461delinsGGAGCGGGAGCGGGAGCG	XP_011539812.1:p.Lys1148=
XM_011541511.2:c.3395+300_3395+317delinsGGAGCGGGAGCGGGAGCG	XP_011539813.1:n.3395+300_3395+317delinsGGAGCGGGAGCGGGAGCG
XM_017001358.1:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	XP_016856847.1:p.Lys1190=
XM_017001359.1:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	XP_016856848.1:p.Lys1190=
NM_001042681.2:c.3570_3587delinsGGAGCGGGAGCGGGAGCG MANE Select	NP_001036146.1:p.Lys1190=
NM_001042682.2:c.1908_1925delinsGGAGCGGGAGCGGGAGCG	NP_001036147.1:p.Lys636=
NM_012102.4:c.3570_3587delinsGGAGCGGGAGCGGGAGCG	NP_036234.3:p.Lys1190=