Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501462_17501463insA , CM000673.2:g.17501462_17501463insA	GRCh38
NC_000011.9:g.17523009_17523010insA , CM000673.1:g.17523009_17523010insA	GRCh37
NC_000011.8:g.17479585_17479586insA	NCBI36
NG_011883.1:g.47954_47955insT
NG_011883.2:g.47954_47955insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2280+19_2280+20insT MANE Select	ENSP00000005226.7:n.2280+19_2280+20insT
ENST00000318024.9:c.1380+19_1380+20insT MANE Plus Clinical	ENSP00000317018.4:n.1380+19_1380+20insT
ENST00000005226.11:c.2280+19_2280+20insT	ENSP00000005226.7:n.2280+19_2280+20insT
ENST00000318024.8:c.1380+19_1380+20insT	ENSP00000317018.4:n.1380+19_1380+20insT
ENST00000526313.5:c.94+19_94+20insT	ENSP00000432236.1:n.94+19_94+20insT
ENST00000527020.5:c.1323+19_1323+20insT	ENSP00000436934.1:n.1323+19_1323+20insT
ENST00000527720.5:c.1287+19_1287+20insT	ENSP00000432944.1:n.1287+19_1287+20insT
ENST00000529563.5:n.264+19_264+20insT
ENST00000534556.1:n.165+19_165+20insT
NM_001297764.1:c.1323+19_1323+20insT	NP_001284693.1:n.1323+19_1323+20insT
NM_005709.3:c.1380+19_1380+20insT	NP_005700.2:n.1380+19_1380+20insT
NM_153676.3:c.2280+19_2280+20insT	NP_710142.1:n.2280+19_2280+20insT
NR_123738.1:n.1415+19_1415+20insT
XM_011519831.1:c.2304+19_2304+20insT	XP_011518133.1:n.2304+19_2304+20insT
XM_011519832.1:c.1533+19_1533+20insT	XP_011518134.1:n.1533+19_1533+20insT
XM_011519833.1:c.1430+19_1430+20insT	XP_011518135.1:n.1430+19_1430+20insT
XR_930841.1:n.1751+19_1751+20insT
XR_930842.1:n.1692+19_1692+20insT
XM_011519832.3:c.1533+19_1533+20insT	XP_011518134.1:n.1533+19_1533+20insT
XM_017017075.1:c.2280+19_2280+20insT	XP_016872564.1:n.2280+19_2280+20insT
XR_001747717.2:n.1539+19_1539+20insT
NM_153676.4:c.2280+19_2280+20insT MANE Select	NP_710142.1:n.2280+19_2280+20insT
NM_001297764.2:c.1323+19_1323+20insT	NP_001284693.1:n.1323+19_1323+20insT
NM_005709.4:c.1380+19_1380+20insT MANE Plus Clinical	NP_005700.2:n.1380+19_1380+20insT
NR_123738.2:n.1415+19_1415+20insT