Canonical Allele Identifier: CA2568213345

Gene: RERE

Linked Data

• ClinVar Variation Id: 2120005
• ClinVar RCV Id: RCV003024934
• gnomAD v4: 1-8359817-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359820_8359822del , CM000663.2:g.8359820_8359822del	GRCh38
NC_000001.10:g.8419880_8419882del , CM000663.1:g.8419880_8419882del	GRCh37
NC_000001.9:g.8342467_8342469del	NCBI36
NG_047035.1:g.462872_462874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1900_1902del	ENSP00000515651.1:p.Lys634del
ENST00000400908.7:c.3562_3564del MANE Select	ENSP00000383700.2:p.Lys1188del
ENST00000337907.7:c.3562_3564del	ENSP00000338629.3:p.Lys1188del
ENST00000377464.5:c.2758_2760del	ENSP00000366684.1:p.Lys920del
ENST00000400907.6:c.1541-4221_1541-4219del	ENSP00000383699.2:n.1541-4221_1541-4219del
ENST00000400908.6:c.3562_3564del	ENSP00000383700.2:p.Lys1188del
ENST00000476556.5:c.1900_1902del	ENSP00000422246.1:p.Lys634del
ENST00000505225.1:c.307+1640_307+1642del	ENSP00000423451.1:n.307+1640_307+1642del
NM_001042681.1:c.3562_3564del	NP_001036146.1:p.Lys1188del
NM_001042682.1:c.1900_1902del	NP_001036147.1:p.Lys634del
NM_012102.3:c.3562_3564del	NP_036234.3:p.Lys1188del
XM_005263464.1:c.3562_3564del	XP_005263521.1:p.Lys1188del
XM_005263466.1:c.2758_2760del	XP_005263523.1:p.Lys920del
XM_006710653.1:c.3562_3564del	XP_006710716.1:p.Lys1188del
XM_011541510.1:c.3436_3438del	XP_011539812.1:p.Lys1146del
XM_011541511.1:c.3395+292_3395+294del	XP_011539813.1:n.3395+292_3395+294del
XM_005263464.2:c.3562_3564del	XP_005263521.1:p.Lys1188del
XM_011541510.2:c.3436_3438del	XP_011539812.1:p.Lys1146del
XM_011541511.2:c.3395+292_3395+294del	XP_011539813.1:n.3395+292_3395+294del
XM_017001358.1:c.3562_3564del	XP_016856847.1:p.Lys1188del
XM_017001359.1:c.3562_3564del	XP_016856848.1:p.Lys1188del
NM_001042681.2:c.3562_3564del MANE Select	NP_001036146.1:p.Lys1188del
NM_001042682.2:c.1900_1902del	NP_001036147.1:p.Lys634del
NM_012102.4:c.3562_3564del	NP_036234.3:p.Lys1188del