Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022755_39022768delinsTT , CM000664.2:g.39022755_39022768delinsTT	GRCh38
NC_000002.11:g.39249896_39249909delinsTT , CM000664.1:g.39249896_39249909delinsTT	GRCh37
NC_000002.10:g.39103400_39103413delinsTT	NCBI36
NG_007530.1:g.102696_102709delinsAA , LRG_754:g.102696_102709delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1540_1553delinsAA
ENST00000685279.1:c.427_440delinsAA	ENSP00000509424.1:p.Leu143_Met147delinsLys
ENST00000688043.1:n.1881_1894delinsAA
ENST00000689668.1:n.1667_1680delinsAA
ENST00000690876.1:c.1549_1562delinsAA	ENSP00000508955.1:p.Leu517_Met521delinsLys
ENST00000691229.1:c.1549_1562delinsAA	ENSP00000510437.1:p.Leu517_Met521delinsLys
ENST00000692089.1:c.1549_1562delinsAA	ENSP00000508626.1:p.Leu517_Met521delinsLys
ENST00000692620.1:c.427_440delinsAA	ENSP00000509311.1:p.Leu143_Met147delinsLys
ENST00000402219.8:c.1660_1673delinsAA MANE Select	ENSP00000384675.2:p.Leu554_Met558delinsLys
ENST00000395038.6:c.1660_1673delinsAA	ENSP00000378479.2:p.Leu554_Met558delinsLys
ENST00000402219.6:c.1660_1673delinsAA	ENSP00000384675.2:p.Leu554_Met558delinsLys
ENST00000426016.5:c.1660_1673delinsAA	ENSP00000387784.1:p.Leu554_Met558delinsLys
NM_005633.3:c.1660_1673delinsAA , LRG_754t1:c.1660_1673delinsAA	NP_005624.2:p.Leu554_Met558delinsLys
XM_005264515.3:c.1660_1673delinsAA	XP_005264572.1:p.Leu554_Met558delinsLys
XM_011533060.1:c.1753_1766delinsAA	XP_011531362.1:p.Leu585_Met589delinsLys
XM_011533061.1:c.1753_1766delinsAA	XP_011531363.1:p.Leu585_Met589delinsLys
XM_011533062.1:c.1639_1652delinsAA	XP_011531364.1:p.Leu547_Met551delinsLys
XM_011533063.1:c.1636_1649delinsAA	XP_011531365.1:p.Leu546_Met550delinsLys
XM_011533064.1:c.1489_1502delinsAA	XP_011531366.1:p.Leu497_Met501delinsLys
XM_011533065.1:c.1753_1766delinsAA	XP_011531367.1:p.Leu585_Met589delinsLys
XM_011533066.1:c.595_608delinsAA	XP_011531368.1:p.Leu199_Met203delinsLys
XM_005264515.4:c.1660_1673delinsAA	XP_005264572.1:p.Leu554_Met558delinsLys
XM_011533062.2:c.1639_1652delinsAA	XP_011531364.1:p.Leu547_Met551delinsLys
XM_011533064.2:c.1489_1502delinsAA	XP_011531366.1:p.Leu497_Met501delinsLys
NM_001382394.1:c.1639_1652delinsAA	NP_001369323.1:p.Leu547_Met551delinsLys
NM_001382395.1:c.1660_1673delinsAA	NP_001369324.1:p.Leu554_Met558delinsLys
NM_005633.4:c.1660_1673delinsAA MANE Select	NP_005624.2:p.Leu554_Met558delinsLys