Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358295_8358304delinsGGGGATCGCT , CM000663.2:g.8358295_8358304delinsGGGGATCGCT	GRCh38
NC_000001.10:g.8418355_8418364delinsGGGGATCGCT , CM000663.1:g.8418355_8418364delinsGGGGATCGCT	GRCh37
NC_000001.9:g.8340942_8340951delinsGGGGATCGCT	NCBI36
NG_047035.1:g.464388_464397delinsAGCGATCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2569_2578delinsAGCGATCCCC	ENSP00000515651.1:p.Ser857=
ENST00000400908.7:c.4231_4240delinsAGCGATCCCC MANE Select	ENSP00000383700.2:p.Ser1411=
ENST00000337907.7:c.4231_4240delinsAGCGATCCCC	ENSP00000338629.3:p.Ser1411=
ENST00000377464.5:c.3427_3436delinsAGCGATCCCC	ENSP00000366684.1:p.Ser1143=
ENST00000400907.6:c.1541-2705_1541-2696delinsAGCGATCCCC	ENSP00000383699.2:n.1541-2705_1541-2696delinsAGCGATCCCC
ENST00000400908.6:c.4231_4240delinsAGCGATCCCC	ENSP00000383700.2:p.Ser1411=
ENST00000476556.5:c.2569_2578delinsAGCGATCCCC	ENSP00000422246.1:p.Ser857=
ENST00000505225.1:c.308-2058_308-2049delinsAGCGATCCCC	ENSP00000423451.1:n.308-2058_308-2049delinsAGCGATCCCC
NM_001042681.1:c.4231_4240delinsAGCGATCCCC	NP_001036146.1:p.Ser1411=
NM_001042682.1:c.2569_2578delinsAGCGATCCCC	NP_001036147.1:p.Ser857=
NM_012102.3:c.4231_4240delinsAGCGATCCCC	NP_036234.3:p.Ser1411=
XM_005263464.1:c.4231_4240delinsAGCGATCCCC	XP_005263521.1:p.Ser1411=
XM_005263466.1:c.3427_3436delinsAGCGATCCCC	XP_005263523.1:p.Ser1143=
XM_006710653.1:c.4231_4240delinsAGCGATCCCC	XP_006710716.1:p.Ser1411=
XM_011541510.1:c.4105_4114delinsAGCGATCCCC	XP_011539812.1:p.Ser1369=
XM_005263464.2:c.4231_4240delinsAGCGATCCCC	XP_005263521.1:p.Ser1411=
XM_011541510.2:c.4105_4114delinsAGCGATCCCC	XP_011539812.1:p.Ser1369=
XM_017001358.1:c.4231_4240delinsAGCGATCCCC	XP_016856847.1:p.Ser1411=
XM_017001359.1:c.4231_4240delinsAGCGATCCCC	XP_016856848.1:p.Ser1411=
NM_001042681.2:c.4231_4240delinsAGCGATCCCC MANE Select	NP_001036146.1:p.Ser1411=
NM_001042682.2:c.2569_2578delinsAGCGATCCCC	NP_001036147.1:p.Ser857=
NM_012102.4:c.4231_4240delinsAGCGATCCCC	NP_036234.3:p.Ser1411=