Canonical Allele Identifier: CA2580618187

Gene: RERE

Linked Data

• ClinVar Variation Id: 2580782
• ClinVar RCV Id: RCV003329977
• gnomAD v4: 1-8358216-TGGTGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358228_8358233del , CM000663.2:g.8358228_8358233del	GRCh38
NC_000001.10:g.8418288_8418293del , CM000663.1:g.8418288_8418293del	GRCh37
NC_000001.9:g.8340875_8340880del	NCBI36
NG_047035.1:g.464470_464475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2651_2656del	ENSP00000515651.1:p.Leu884_His885del
ENST00000400908.7:c.4313_4318del MANE Select	ENSP00000383700.2:p.Leu1438_His1439del
ENST00000337907.7:c.4313_4318del	ENSP00000338629.3:p.Leu1438_His1439del
ENST00000377464.5:c.3509_3514del	ENSP00000366684.1:p.Leu1170_His1171del
ENST00000400907.6:c.1541-2623_1541-2618del	ENSP00000383699.2:n.1541-2623_1541-2618del
ENST00000400908.6:c.4313_4318del	ENSP00000383700.2:p.Leu1438_His1439del
ENST00000476556.5:c.2651_2656del	ENSP00000422246.1:p.Leu884_His885del
ENST00000505225.1:c.308-1976_308-1971del	ENSP00000423451.1:n.308-1976_308-1971del
NM_001042681.1:c.4313_4318del	NP_001036146.1:p.Leu1438_His1439del
NM_001042682.1:c.2651_2656del	NP_001036147.1:p.Leu884_His885del
NM_012102.3:c.4313_4318del	NP_036234.3:p.Leu1438_His1439del
XM_005263464.1:c.4313_4318del	XP_005263521.1:p.Leu1438_His1439del
XM_005263466.1:c.3509_3514del	XP_005263523.1:p.Leu1170_His1171del
XM_006710653.1:c.4313_4318del	XP_006710716.1:p.Leu1438_His1439del
XM_011541510.1:c.4187_4192del	XP_011539812.1:p.Leu1396_His1397del
XM_005263464.2:c.4313_4318del	XP_005263521.1:p.Leu1438_His1439del
XM_011541510.2:c.4187_4192del	XP_011539812.1:p.Leu1396_His1397del
XM_017001358.1:c.4313_4318del	XP_016856847.1:p.Leu1438_His1439del
XM_017001359.1:c.4313_4318del	XP_016856848.1:p.Leu1438_His1439del
NM_001042681.2:c.4313_4318del MANE Select	NP_001036146.1:p.Leu1438_His1439del
NM_001042682.2:c.2651_2656del	NP_001036147.1:p.Leu884_His885del
NM_012102.4:c.4313_4318del	NP_036234.3:p.Leu1438_His1439del