Canonical Allele Identifier: CA2643072842

Gene: RERE

Linked Data

• gnomAD v4: 1-8355591-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355596dup , CM000663.2:g.8355596dup	GRCh38
NC_000001.10:g.8415656dup , CM000663.1:g.8415656dup	GRCh37
NC_000001.9:g.8338243dup	NCBI36
NG_047035.1:g.467100dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2832dup	ENSP00000515651.1:p.Tyr945LeufsTer4
ENST00000400908.7:c.4494dup MANE Select	ENSP00000383700.2:p.Tyr1499LeufsTer4
ENST00000337907.7:c.4494dup	ENSP00000338629.3:p.Tyr1499LeufsTer4
ENST00000377464.5:c.3690dup	ENSP00000366684.1:p.Tyr1231LeufsTer4
ENST00000400907.6:c.1548dup	ENSP00000383699.2:p.Tyr517LeufsTer4
ENST00000400908.6:c.4494dup	ENSP00000383700.2:p.Tyr1499LeufsTer4
ENST00000476556.5:c.2832dup	ENSP00000422246.1:p.Tyr945LeufsTer4
ENST00000505225.1:c.462dup	ENSP00000423451.1:p.Tyr155LeufsTer4
NM_001042681.1:c.4494dup	NP_001036146.1:p.Tyr1499LeufsTer4
NM_001042682.1:c.2832dup	NP_001036147.1:p.Tyr945LeufsTer4
NM_012102.3:c.4494dup	NP_036234.3:p.Tyr1499LeufsTer4
XM_005263464.1:c.4494dup	XP_005263521.1:p.Tyr1499LeufsTer4
XM_005263466.1:c.3690dup	XP_005263523.1:p.Tyr1231LeufsTer4
XM_006710653.1:c.4494dup	XP_006710716.1:p.Tyr1499LeufsTer4
XM_011541510.1:c.4368dup	XP_011539812.1:p.Tyr1457LeufsTer4
XM_005263464.2:c.4494dup	XP_005263521.1:p.Tyr1499LeufsTer4
XM_011541510.2:c.4368dup	XP_011539812.1:p.Tyr1457LeufsTer4
XM_017001358.1:c.4494dup	XP_016856847.1:p.Tyr1499LeufsTer4
XM_017001359.1:c.4494dup	XP_016856848.1:p.Tyr1499LeufsTer4
NM_001042681.2:c.4494dup MANE Select	NP_001036146.1:p.Tyr1499LeufsTer4
NM_001042682.2:c.2832dup	NP_001036147.1:p.Tyr945LeufsTer4
NM_012102.4:c.4494dup	NP_036234.3:p.Tyr1499LeufsTer4