Canonical Allele Identifier: CA2643066679

Gene: RERE

Linked Data

• gnomAD v4: 1-8360239-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360243del , CM000663.2:g.8360243del	GRCh38
NC_000001.10:g.8420303del , CM000663.1:g.8420303del	GRCh37
NC_000001.9:g.8342890del	NCBI36
NG_047035.1:g.462452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1605del	ENSP00000515651.1:p.Thr536ProfsTer?
ENST00000400908.7:c.3267del MANE Select	ENSP00000383700.2:p.Thr1090ProfsTer?
ENST00000337907.7:c.3267del	ENSP00000338629.3:p.Thr1090ProfsTer?
ENST00000377464.5:c.2463del	ENSP00000366684.1:p.Thr822ProfsTer?
ENST00000400907.6:c.1540+4506del	ENSP00000383699.2:n.1540+4506del
ENST00000400908.6:c.3267del	ENSP00000383700.2:p.Thr1090ProfsTer?
ENST00000476556.5:c.1605del	ENSP00000422246.1:p.Thr536ProfsTer?
ENST00000505225.1:c.307+1220del	ENSP00000423451.1:n.307+1220del
NM_001042681.1:c.3267del	NP_001036146.1:p.Thr1090ProfsTer?
NM_001042682.1:c.1605del	NP_001036147.1:p.Thr536ProfsTer?
NM_012102.3:c.3267del	NP_036234.3:p.Thr1090ProfsTer?
XM_005263464.1:c.3267del	XP_005263521.1:p.Thr1090ProfsTer?
XM_005263466.1:c.2463del	XP_005263523.1:p.Thr822ProfsTer?
XM_006710653.1:c.3267del	XP_006710716.1:p.Thr1090ProfsTer?
XM_011541510.1:c.3141del	XP_011539812.1:p.Thr1048ProfsTer?
XM_011541511.1:c.3267del	XP_011539813.1:p.Thr1090ProfsTer?
XM_005263464.2:c.3267del	XP_005263521.1:p.Thr1090ProfsTer?
XM_011541510.2:c.3141del	XP_011539812.1:p.Thr1048ProfsTer?
XM_011541511.2:c.3267del	XP_011539813.1:p.Thr1090ProfsTer?
XM_017001358.1:c.3267del	XP_016856847.1:p.Thr1090ProfsTer?
XM_017001359.1:c.3267del	XP_016856848.1:p.Thr1090ProfsTer?
NM_001042681.2:c.3267del MANE Select	NP_001036146.1:p.Thr1090ProfsTer?
NM_001042682.2:c.1605del	NP_001036147.1:p.Thr536ProfsTer?
NM_012102.4:c.3267del	NP_036234.3:p.Thr1090ProfsTer?