Canonical Allele Identifier: CA17694763

Gene: RERE

Linked Data

• dbSNP Id: rs920954813
• gnomAD v2: 1-8420284-CCTT-C
• gnomAD v4: 1-8360224-CCTT-C
• MyVariant Identifiers: chr1:g.8420285_8420287del (hg19) ; chr1:g.8360225_8360227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360225_8360227del , CM000663.2:g.8360225_8360227del	GRCh38
NC_000001.10:g.8420285_8420287del , CM000663.1:g.8420285_8420287del	GRCh37
NC_000001.9:g.8342872_8342874del	NCBI36
NG_047035.1:g.462465_462467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1618_1620del	ENSP00000515651.1:p.Lys540del
ENST00000400908.7:c.3280_3282del MANE Select	ENSP00000383700.2:p.Lys1094del
ENST00000337907.7:c.3280_3282del	ENSP00000338629.3:p.Lys1094del
ENST00000377464.5:c.2476_2478del	ENSP00000366684.1:p.Lys826del
ENST00000400907.6:c.1540+4519_1540+4521del	ENSP00000383699.2:n.1540+4519_1540+4521del
ENST00000400908.6:c.3280_3282del	ENSP00000383700.2:p.Lys1094del
ENST00000476556.5:c.1618_1620del	ENSP00000422246.1:p.Lys540del
ENST00000505225.1:c.307+1233_307+1235del	ENSP00000423451.1:n.307+1233_307+1235del
NM_001042681.1:c.3280_3282del	NP_001036146.1:p.Lys1094del
NM_001042682.1:c.1618_1620del	NP_001036147.1:p.Lys540del
NM_012102.3:c.3280_3282del	NP_036234.3:p.Lys1094del
XM_005263464.1:c.3280_3282del	XP_005263521.1:p.Lys1094del
XM_005263466.1:c.2476_2478del	XP_005263523.1:p.Lys826del
XM_006710653.1:c.3280_3282del	XP_006710716.1:p.Lys1094del
XM_011541510.1:c.3154_3156del	XP_011539812.1:p.Lys1052del
XM_011541511.1:c.3280_3282del	XP_011539813.1:p.Lys1094del
XM_005263464.2:c.3280_3282del	XP_005263521.1:p.Lys1094del
XM_011541510.2:c.3154_3156del	XP_011539812.1:p.Lys1052del
XM_011541511.2:c.3280_3282del	XP_011539813.1:p.Lys1094del
XM_017001358.1:c.3280_3282del	XP_016856847.1:p.Lys1094del
XM_017001359.1:c.3280_3282del	XP_016856848.1:p.Lys1094del
NM_001042681.2:c.3280_3282del MANE Select	NP_001036146.1:p.Lys1094del
NM_001042682.2:c.1618_1620del	NP_001036147.1:p.Lys540del
NM_012102.4:c.3280_3282del	NP_036234.3:p.Lys1094del