Canonical Allele Identifier: CA2742376365

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359802_8359813del , CM000663.2:g.8359802_8359813del	GRCh38
NC_000001.10:g.8419862_8419873del , CM000663.1:g.8419862_8419873del	GRCh37
NC_000001.9:g.8342449_8342460del	NCBI36
NG_047035.1:g.462879_462890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1907_1918del	ENSP00000515651.1:p.Lys636_Glu639del
ENST00000400908.7:c.3569_3580del MANE Select	ENSP00000383700.2:p.Lys1190_Glu1193del
ENST00000337907.7:c.3569_3580del	ENSP00000338629.3:p.Lys1190_Glu1193del
ENST00000377464.5:c.2765_2776del	ENSP00000366684.1:p.Lys922_Glu925del
ENST00000400907.6:c.1541-4214_1541-4203del	ENSP00000383699.2:n.1541-4214_1541-4203del
ENST00000400908.6:c.3569_3580del	ENSP00000383700.2:p.Lys1190_Glu1193del
ENST00000476556.5:c.1907_1918del	ENSP00000422246.1:p.Lys636_Glu639del
ENST00000505225.1:c.307+1647_307+1658del	ENSP00000423451.1:n.307+1647_307+1658del
NM_001042681.1:c.3569_3580del	NP_001036146.1:p.Lys1190_Glu1193del
NM_001042682.1:c.1907_1918del	NP_001036147.1:p.Lys636_Glu639del
NM_012102.3:c.3569_3580del	NP_036234.3:p.Lys1190_Glu1193del
XM_005263464.1:c.3569_3580del	XP_005263521.1:p.Lys1190_Glu1193del
XM_005263466.1:c.2765_2776del	XP_005263523.1:p.Lys922_Glu925del
XM_006710653.1:c.3569_3580del	XP_006710716.1:p.Lys1190_Glu1193del
XM_011541510.1:c.3443_3454del	XP_011539812.1:p.Lys1148_Glu1151del
XM_011541511.1:c.3395+299_3395+310del	XP_011539813.1:n.3395+299_3395+310del
XM_005263464.2:c.3569_3580del	XP_005263521.1:p.Lys1190_Glu1193del
XM_011541510.2:c.3443_3454del	XP_011539812.1:p.Lys1148_Glu1151del
XM_011541511.2:c.3395+299_3395+310del	XP_011539813.1:n.3395+299_3395+310del
XM_017001358.1:c.3569_3580del	XP_016856847.1:p.Lys1190_Glu1193del
XM_017001359.1:c.3569_3580del	XP_016856848.1:p.Lys1190_Glu1193del
NM_001042681.2:c.3569_3580del MANE Select	NP_001036146.1:p.Lys1190_Glu1193del
NM_001042682.2:c.1907_1918del	NP_001036147.1:p.Lys636_Glu639del
NM_012102.4:c.3569_3580del	NP_036234.3:p.Lys1190_Glu1193del