Canonical Allele Identifier: CA2574344383

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355306_8355333del , CM000663.2:g.8355306_8355333del	GRCh38
NC_000001.10:g.8415366_8415393del , CM000663.1:g.8415366_8415393del	GRCh37
NC_000001.9:g.8337953_8337980del	NCBI36
NG_047035.1:g.467360_467387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.3005+87_3005+114del	ENSP00000515651.1:n.3005+87_3005+114del
ENST00000400908.7:c.4667+87_4667+114del MANE Select	ENSP00000383700.2:n.4667+87_4667+114del
ENST00000337907.7:c.4667+87_4667+114del	ENSP00000338629.3:n.4667+87_4667+114del
ENST00000377464.5:c.3863+87_3863+114del	ENSP00000366684.1:n.3863+87_3863+114del
ENST00000400907.6:c.1721+87_1721+114del	ENSP00000383699.2:n.1721+87_1721+114del
ENST00000400908.6:c.4667+87_4667+114del	ENSP00000383700.2:n.4667+87_4667+114del
ENST00000476556.5:c.3005+87_3005+114del	ENSP00000422246.1:n.3005+87_3005+114del
NM_001042681.1:c.4667+87_4667+114del	NP_001036146.1:n.4667+87_4667+114del
NM_001042682.1:c.3005+87_3005+114del	NP_001036147.1:n.3005+87_3005+114del
NM_012102.3:c.4667+87_4667+114del	NP_036234.3:n.4667+87_4667+114del
XM_005263464.1:c.4667+87_4667+114del	XP_005263521.1:n.4667+87_4667+114del
XM_005263466.1:c.3863+87_3863+114del	XP_005263523.1:n.3863+87_3863+114del
XM_006710653.1:c.4667+87_4667+114del	XP_006710716.1:n.4667+87_4667+114del
XM_011541510.1:c.4541+87_4541+114del	XP_011539812.1:n.4541+87_4541+114del
XM_005263464.2:c.4667+87_4667+114del	XP_005263521.1:n.4667+87_4667+114del
XM_011541510.2:c.4541+87_4541+114del	XP_011539812.1:n.4541+87_4541+114del
XM_017001358.1:c.4667+87_4667+114del	XP_016856847.1:n.4667+87_4667+114del
XM_017001359.1:c.4667+87_4667+114del	XP_016856848.1:n.4667+87_4667+114del
NM_001042681.2:c.4667+87_4667+114del MANE Select	NP_001036146.1:n.4667+87_4667+114del
NM_001042682.2:c.3005+87_3005+114del	NP_001036147.1:n.3005+87_3005+114del
NM_012102.4:c.4667+87_4667+114del	NP_036234.3:n.4667+87_4667+114del