Canonical Allele Identifier: CA1152321240

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360224_8360227delinsCCTT , CM000663.2:g.8360224_8360227delinsCCTT	GRCh38
NC_000001.10:g.8420284_8420287delinsCCTT , CM000663.1:g.8420284_8420287delinsCCTT	GRCh37
NC_000001.9:g.8342871_8342874delinsCCTT	NCBI36
NG_047035.1:g.462465_462468delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1618_1621delinsAAGG	ENSP00000515651.1:p.Lys540=
ENST00000400908.7:c.3280_3283delinsAAGG MANE Select	ENSP00000383700.2:p.Lys1094=
ENST00000337907.7:c.3280_3283delinsAAGG	ENSP00000338629.3:p.Lys1094=
ENST00000377464.5:c.2476_2479delinsAAGG	ENSP00000366684.1:p.Lys826=
ENST00000400907.6:c.1540+4519_1540+4522delinsAAGG	ENSP00000383699.2:n.1540+4519_1540+4522delinsAAGG
ENST00000400908.6:c.3280_3283delinsAAGG	ENSP00000383700.2:p.Lys1094=
ENST00000476556.5:c.1618_1621delinsAAGG	ENSP00000422246.1:p.Lys540=
ENST00000505225.1:c.307+1233_307+1236delinsAAGG	ENSP00000423451.1:n.307+1233_307+1236delinsAAGG
NM_001042681.1:c.3280_3283delinsAAGG	NP_001036146.1:p.Lys1094=
NM_001042682.1:c.1618_1621delinsAAGG	NP_001036147.1:p.Lys540=
NM_012102.3:c.3280_3283delinsAAGG	NP_036234.3:p.Lys1094=
XM_005263464.1:c.3280_3283delinsAAGG	XP_005263521.1:p.Lys1094=
XM_005263466.1:c.2476_2479delinsAAGG	XP_005263523.1:p.Lys826=
XM_006710653.1:c.3280_3283delinsAAGG	XP_006710716.1:p.Lys1094=
XM_011541510.1:c.3154_3157delinsAAGG	XP_011539812.1:p.Lys1052=
XM_011541511.1:c.3280_3283delinsAAGG	XP_011539813.1:p.Lys1094=
XM_005263464.2:c.3280_3283delinsAAGG	XP_005263521.1:p.Lys1094=
XM_011541510.2:c.3154_3157delinsAAGG	XP_011539812.1:p.Lys1052=
XM_011541511.2:c.3280_3283delinsAAGG	XP_011539813.1:p.Lys1094=
XM_017001358.1:c.3280_3283delinsAAGG	XP_016856847.1:p.Lys1094=
XM_017001359.1:c.3280_3283delinsAAGG	XP_016856848.1:p.Lys1094=
NM_001042681.2:c.3280_3283delinsAAGG MANE Select	NP_001036146.1:p.Lys1094=
NM_001042682.2:c.1618_1621delinsAAGG	NP_001036147.1:p.Lys540=
NM_012102.4:c.3280_3283delinsAAGG	NP_036234.3:p.Lys1094=