Canonical Allele Identifier: CA739600581

Gene: RERE

Linked Data

• dbSNP Id: rs1176857975
• gnomAD v4: 1-8358295-GGGGATCGCT-G
• MyVariant Identifiers: chr1:g.8418356_8418364del (hg19) ; chr1:g.8358296_8358304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358298_8358306del , CM000663.2:g.8358298_8358306del	GRCh38
NC_000001.10:g.8418358_8418366del , CM000663.1:g.8418358_8418366del	GRCh37
NC_000001.9:g.8340945_8340953del	NCBI36
NG_047035.1:g.464388_464396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2569_2577del	ENSP00000515651.1:p.Ser857_Pro859del
ENST00000400908.7:c.4231_4239del MANE Select	ENSP00000383700.2:p.Ser1411_Pro1413del
ENST00000337907.7:c.4231_4239del	ENSP00000338629.3:p.Ser1411_Pro1413del
ENST00000377464.5:c.3427_3435del	ENSP00000366684.1:p.Ser1143_Pro1145del
ENST00000400907.6:c.1541-2705_1541-2697del	ENSP00000383699.2:n.1541-2705_1541-2697del
ENST00000400908.6:c.4231_4239del	ENSP00000383700.2:p.Ser1411_Pro1413del
ENST00000476556.5:c.2569_2577del	ENSP00000422246.1:p.Ser857_Pro859del
ENST00000505225.1:c.308-2058_308-2050del	ENSP00000423451.1:n.308-2058_308-2050del
NM_001042681.1:c.4231_4239del	NP_001036146.1:p.Ser1411_Pro1413del
NM_001042682.1:c.2569_2577del	NP_001036147.1:p.Ser857_Pro859del
NM_012102.3:c.4231_4239del	NP_036234.3:p.Ser1411_Pro1413del
XM_005263464.1:c.4231_4239del	XP_005263521.1:p.Ser1411_Pro1413del
XM_005263466.1:c.3427_3435del	XP_005263523.1:p.Ser1143_Pro1145del
XM_006710653.1:c.4231_4239del	XP_006710716.1:p.Ser1411_Pro1413del
XM_011541510.1:c.4105_4113del	XP_011539812.1:p.Ser1369_Pro1371del
XM_005263464.2:c.4231_4239del	XP_005263521.1:p.Ser1411_Pro1413del
XM_011541510.2:c.4105_4113del	XP_011539812.1:p.Ser1369_Pro1371del
XM_017001358.1:c.4231_4239del	XP_016856847.1:p.Ser1411_Pro1413del
XM_017001359.1:c.4231_4239del	XP_016856848.1:p.Ser1411_Pro1413del
NM_001042681.2:c.4231_4239del MANE Select	NP_001036146.1:p.Ser1411_Pro1413del
NM_001042682.2:c.2569_2577del	NP_001036147.1:p.Ser857_Pro859del
NM_012102.4:c.4231_4239del	NP_036234.3:p.Ser1411_Pro1413del