Canonical Allele Identifier: CA2643072879
Gene: RERE HGNC NCBI

Linked Data

gnomAD v4: 1-8355645-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8355647del , CM000663.2:g.8355647del GRCh38
NC_000001.10:g.8415707del , CM000663.1:g.8415707del GRCh37
NC_000001.9:g.8338294del NCBI36
NG_047035.1:g.467046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2825-47del ENSP00000515651.1:n.2825-47del
ENST00000400908.7:c.4487-47del MANE Select ENSP00000383700.2:n.4487-47del
ENST00000337907.7:c.4487-47del ENSP00000338629.3:n.4487-47del
ENST00000377464.5:c.3683-47del ENSP00000366684.1:n.3683-47del
ENST00000400907.6:c.1541-47del ENSP00000383699.2:n.1541-47del
ENST00000400908.6:c.4487-47del ENSP00000383700.2:n.4487-47del
ENST00000476556.5:c.2825-47del ENSP00000422246.1:n.2825-47del
ENST00000505225.1:c.455-47del ENSP00000423451.1:n.455-47del
NM_001042681.1:c.4487-47del NP_001036146.1:n.4487-47del
NM_001042682.1:c.2825-47del NP_001036147.1:n.2825-47del
NM_012102.3:c.4487-47del NP_036234.3:n.4487-47del
XM_005263464.1:c.4487-47del XP_005263521.1:n.4487-47del
XM_005263466.1:c.3683-47del XP_005263523.1:n.3683-47del
XM_006710653.1:c.4487-47del XP_006710716.1:n.4487-47del
XM_011541510.1:c.4361-47del XP_011539812.1:n.4361-47del
XM_005263464.2:c.4487-47del XP_005263521.1:n.4487-47del
XM_011541510.2:c.4361-47del XP_011539812.1:n.4361-47del
XM_017001358.1:c.4487-47del XP_016856847.1:n.4487-47del
XM_017001359.1:c.4487-47del XP_016856848.1:n.4487-47del
NM_001042681.2:c.4487-47del MANE Select NP_001036146.1:n.4487-47del
NM_001042682.2:c.2825-47del NP_001036147.1:n.2825-47del
NM_012102.4:c.4487-47del NP_036234.3:n.4487-47del