Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022957_39022958insTTTTTTTTT , CM000664.2:g.39022957_39022958insTTTTTTTTT	GRCh38
NC_000002.11:g.39250098_39250099insTTTTTTTTT , CM000664.1:g.39250098_39250099insTTTTTTTTT	GRCh37
NC_000002.10:g.39103602_39103603insTTTTTTTTT	NCBI36
NG_007530.1:g.102509_102510insAAAAAAAAA , LRG_754:g.102509_102510insAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1353_1354insAAAAAAAAA
ENST00000685279.1:c.240_241insAAAAAAAAA	ENSP00000509424.1:p.Lys80_Glu81insLysLysLys
ENST00000688043.1:n.1694_1695insAAAAAAAAA
ENST00000689668.1:n.1480_1481insAAAAAAAAA
ENST00000690876.1:c.1362_1363insAAAAAAAAA	ENSP00000508955.1:p.Lys454_Glu455insLysLysLys
ENST00000691229.1:c.1362_1363insAAAAAAAAA	ENSP00000510437.1:p.Lys454_Glu455insLysLysLys
ENST00000692089.1:c.1362_1363insAAAAAAAAA	ENSP00000508626.1:p.Lys454_Glu455insLysLysLys
ENST00000692620.1:c.240_241insAAAAAAAAA	ENSP00000509311.1:p.Lys80_Glu81insLysLysLys
ENST00000402219.8:c.1473_1474insAAAAAAAAA MANE Select	ENSP00000384675.2:p.Lys491_Glu492insLysLysLys
ENST00000395038.6:c.1473_1474insAAAAAAAAA	ENSP00000378479.2:p.Lys491_Glu492insLysLysLys
ENST00000402219.6:c.1473_1474insAAAAAAAAA	ENSP00000384675.2:p.Lys491_Glu492insLysLysLys
ENST00000426016.5:c.1473_1474insAAAAAAAAA	ENSP00000387784.1:p.Lys491_Glu492insLysLysLys
ENST00000472480.1:n.317_318insAAAAAAAAA
NM_005633.3:c.1473_1474insAAAAAAAAA , LRG_754t1:c.1473_1474insAAAAAAAAA	NP_005624.2:p.Lys491_Glu492insLysLysLys
XM_005264515.3:c.1473_1474insAAAAAAAAA	XP_005264572.1:p.Lys491_Glu492insLysLysLys
XM_011533060.1:c.1566_1567insAAAAAAAAA	XP_011531362.1:p.Lys522_Glu523insLysLysLys
XM_011533061.1:c.1566_1567insAAAAAAAAA	XP_011531363.1:p.Lys522_Glu523insLysLysLys
XM_011533062.1:c.1452_1453insAAAAAAAAA	XP_011531364.1:p.Lys484_Glu485insLysLysLys
XM_011533063.1:c.1449_1450insAAAAAAAAA	XP_011531365.1:p.Lys483_Glu484insLysLysLys
XM_011533064.1:c.1302_1303insAAAAAAAAA	XP_011531366.1:p.Lys434_Glu435insLysLysLys
XM_011533065.1:c.1566_1567insAAAAAAAAA	XP_011531367.1:p.Lys522_Glu523insLysLysLys
XM_011533066.1:c.408_409insAAAAAAAAA	XP_011531368.1:p.Lys136_Glu137insLysLysLys
XM_005264515.4:c.1473_1474insAAAAAAAAA	XP_005264572.1:p.Lys491_Glu492insLysLysLys
XM_011533062.2:c.1452_1453insAAAAAAAAA	XP_011531364.1:p.Lys484_Glu485insLysLysLys
XM_011533064.2:c.1302_1303insAAAAAAAAA	XP_011531366.1:p.Lys434_Glu435insLysLysLys
NM_001382394.1:c.1452_1453insAAAAAAAAA	NP_001369323.1:p.Lys484_Glu485insLysLysLys
NM_001382395.1:c.1473_1474insAAAAAAAAA	NP_001369324.1:p.Lys491_Glu492insLysLysLys
NM_005633.4:c.1473_1474insAAAAAAAAA MANE Select	NP_005624.2:p.Lys491_Glu492insLysLysLys