Canonical Allele Identifier: CA2643066681

Gene: RERE

Linked Data

• gnomAD v4: 1-8360252-GGACGACCCCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360254_8360265del , CM000663.2:g.8360254_8360265del	GRCh38
NC_000001.10:g.8420314_8420325del , CM000663.1:g.8420314_8420325del	GRCh37
NC_000001.9:g.8342901_8342912del	NCBI36
NG_047035.1:g.462428_462439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1581_1592del	ENSP00000515651.1:p.Gly528_Ser531del
ENST00000400908.7:c.3243_3254del MANE Select	ENSP00000383700.2:p.Gly1082_Ser1085del
ENST00000337907.7:c.3243_3254del	ENSP00000338629.3:p.Gly1082_Ser1085del
ENST00000377464.5:c.2439_2450del	ENSP00000366684.1:p.Gly814_Ser817del
ENST00000400907.6:c.1540+4482_1540+4493del	ENSP00000383699.2:n.1540+4482_1540+4493del
ENST00000400908.6:c.3243_3254del	ENSP00000383700.2:p.Gly1082_Ser1085del
ENST00000476556.5:c.1581_1592del	ENSP00000422246.1:p.Gly528_Ser531del
ENST00000505225.1:c.307+1196_307+1207del	ENSP00000423451.1:n.307+1196_307+1207del
NM_001042681.1:c.3243_3254del	NP_001036146.1:p.Gly1082_Ser1085del
NM_001042682.1:c.1581_1592del	NP_001036147.1:p.Gly528_Ser531del
NM_012102.3:c.3243_3254del	NP_036234.3:p.Gly1082_Ser1085del
XM_005263464.1:c.3243_3254del	XP_005263521.1:p.Gly1082_Ser1085del
XM_005263466.1:c.2439_2450del	XP_005263523.1:p.Gly814_Ser817del
XM_006710653.1:c.3243_3254del	XP_006710716.1:p.Gly1082_Ser1085del
XM_011541510.1:c.3117_3128del	XP_011539812.1:p.Gly1040_Ser1043del
XM_011541511.1:c.3243_3254del	XP_011539813.1:p.Gly1082_Ser1085del
XM_005263464.2:c.3243_3254del	XP_005263521.1:p.Gly1082_Ser1085del
XM_011541510.2:c.3117_3128del	XP_011539812.1:p.Gly1040_Ser1043del
XM_011541511.2:c.3243_3254del	XP_011539813.1:p.Gly1082_Ser1085del
XM_017001358.1:c.3243_3254del	XP_016856847.1:p.Gly1082_Ser1085del
XM_017001359.1:c.3243_3254del	XP_016856848.1:p.Gly1082_Ser1085del
NM_001042681.2:c.3243_3254del MANE Select	NP_001036146.1:p.Gly1082_Ser1085del
NM_001042682.2:c.1581_1592del	NP_001036147.1:p.Gly528_Ser531del
NM_012102.4:c.3243_3254del	NP_036234.3:p.Gly1082_Ser1085del