Canonical Allele Identifier: CA2643072838

Gene: RERE

Linked Data

• gnomAD v4: 1-8355562-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355565del , CM000663.2:g.8355565del	GRCh38
NC_000001.10:g.8415625del , CM000663.1:g.8415625del	GRCh37
NC_000001.9:g.8338212del	NCBI36
NG_047035.1:g.467129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2861del	ENSP00000515651.1:p.Pro954HisfsTer?
ENST00000400908.7:c.4523del MANE Select	ENSP00000383700.2:p.Pro1508HisfsTer?
ENST00000337907.7:c.4523del	ENSP00000338629.3:p.Pro1508HisfsTer?
ENST00000377464.5:c.3719del	ENSP00000366684.1:p.Pro1240HisfsTer?
ENST00000400907.6:c.1577del	ENSP00000383699.2:p.Pro526HisfsTer?
ENST00000400908.6:c.4523del	ENSP00000383700.2:p.Pro1508HisfsTer?
ENST00000476556.5:c.2861del	ENSP00000422246.1:p.Pro954HisfsTer?
ENST00000505225.1:c.491del	ENSP00000423451.1:p.Pro164HisfsTer?
NM_001042681.1:c.4523del	NP_001036146.1:p.Pro1508HisfsTer?
NM_001042682.1:c.2861del	NP_001036147.1:p.Pro954HisfsTer?
NM_012102.3:c.4523del	NP_036234.3:p.Pro1508HisfsTer?
XM_005263464.1:c.4523del	XP_005263521.1:p.Pro1508HisfsTer?
XM_005263466.1:c.3719del	XP_005263523.1:p.Pro1240HisfsTer?
XM_006710653.1:c.4523del	XP_006710716.1:p.Pro1508HisfsTer?
XM_011541510.1:c.4397del	XP_011539812.1:p.Pro1466HisfsTer?
XM_005263464.2:c.4523del	XP_005263521.1:p.Pro1508HisfsTer?
XM_011541510.2:c.4397del	XP_011539812.1:p.Pro1466HisfsTer?
XM_017001358.1:c.4523del	XP_016856847.1:p.Pro1508HisfsTer?
XM_017001359.1:c.4523del	XP_016856848.1:p.Pro1508HisfsTer?
NM_001042681.2:c.4523del MANE Select	NP_001036146.1:p.Pro1508HisfsTer?
NM_001042682.2:c.2861del	NP_001036147.1:p.Pro954HisfsTer?
NM_012102.4:c.4523del	NP_036234.3:p.Pro1508HisfsTer?