Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022732_39022737dup , CM000664.2:g.39022732_39022737dup	GRCh38
NC_000002.11:g.39249873_39249878dup , CM000664.1:g.39249873_39249878dup	GRCh37
NC_000002.10:g.39103377_39103382dup	NCBI36
NG_007530.1:g.102729_102734dup , LRG_754:g.102729_102734dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1573_1578dup
ENST00000685279.1:c.460_465dup	ENSP00000509424.1:p.Gln155_Met156insGluGln
ENST00000688043.1:n.1914_1919dup
ENST00000689668.1:n.1700_1705dup
ENST00000690876.1:c.1582_1587dup	ENSP00000508955.1:p.Gln529_Met530insGluGln
ENST00000691229.1:c.1582_1587dup	ENSP00000510437.1:p.Gln529_Met530insGluGln
ENST00000692089.1:c.1582_1587dup	ENSP00000508626.1:p.Gln529_Met530insGluGln
ENST00000692620.1:c.460_465dup	ENSP00000509311.1:p.Gln155_Met156insGluGln
ENST00000402219.8:c.1693_1698dup MANE Select	ENSP00000384675.2:p.Gln566_Met567insGluGln
ENST00000395038.6:c.1693_1698dup	ENSP00000378479.2:p.Gln566_Met567insGluGln
ENST00000402219.6:c.1693_1698dup	ENSP00000384675.2:p.Gln566_Met567insGluGln
ENST00000426016.5:c.1693_1698dup	ENSP00000387784.1:p.Gln566_Met567insGluGln
NM_005633.3:c.1693_1698dup , LRG_754t1:c.1693_1698dup	NP_005624.2:p.Gln566_Met567insGluGln
XM_005264515.3:c.1693_1698dup	XP_005264572.1:p.Gln566_Met567insGluGln
XM_011533060.1:c.1786_1791dup	XP_011531362.1:p.Gln597_Met598insGluGln
XM_011533061.1:c.1786_1791dup	XP_011531363.1:p.Gln597_Met598insGluGln
XM_011533062.1:c.1672_1677dup	XP_011531364.1:p.Gln559_Met560insGluGln
XM_011533063.1:c.1669_1674dup	XP_011531365.1:p.Gln558_Met559insGluGln
XM_011533064.1:c.1522_1527dup	XP_011531366.1:p.Gln509_Met510insGluGln
XM_011533065.1:c.1786_1791dup	XP_011531367.1:p.Gln597_Met598insGluGln
XM_011533066.1:c.628_633dup	XP_011531368.1:p.Gln211_Met212insGluGln
XM_005264515.4:c.1693_1698dup	XP_005264572.1:p.Gln566_Met567insGluGln
XM_011533062.2:c.1672_1677dup	XP_011531364.1:p.Gln559_Met560insGluGln
XM_011533064.2:c.1522_1527dup	XP_011531366.1:p.Gln509_Met510insGluGln
NM_001382394.1:c.1672_1677dup	NP_001369323.1:p.Gln559_Met560insGluGln
NM_001382395.1:c.1693_1698dup	NP_001369324.1:p.Gln566_Met567insGluGln
NM_005633.4:c.1693_1698dup MANE Select	NP_005624.2:p.Gln566_Met567insGluGln