Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022526_39022527insA , CM000664.2:g.39022526_39022527insA	GRCh38
NC_000002.11:g.39249667_39249668insA , CM000664.1:g.39249667_39249668insA	GRCh37
NC_000002.10:g.39103171_39103172insA	NCBI36
NG_007530.1:g.102937_102938insT , LRG_754:g.102937_102938insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1781_1782insT
ENST00000685279.1:c.625+43_625+44insT	ENSP00000509424.1:n.625+43_625+44insT
ENST00000688043.1:n.2079+43_2079+44insT
ENST00000689668.1:n.1865+43_1865+44insT
ENST00000690876.1:c.1747+43_1747+44insT	ENSP00000508955.1:n.1747+43_1747+44insT
ENST00000691229.1:c.1747+43_1747+44insT	ENSP00000510437.1:n.1747+43_1747+44insT
ENST00000692089.1:c.1747+43_1747+44insT	ENSP00000508626.1:n.1747+43_1747+44insT
ENST00000692620.1:c.625+43_625+44insT	ENSP00000509311.1:n.625+43_625+44insT
ENST00000402219.8:c.1858+43_1858+44insT MANE Select	ENSP00000384675.2:n.1858+43_1858+44insT
ENST00000395038.6:c.1858+43_1858+44insT	ENSP00000378479.2:n.1858+43_1858+44insT
ENST00000402219.6:c.1858+43_1858+44insT	ENSP00000384675.2:n.1858+43_1858+44insT
ENST00000426016.5:c.1858+43_1858+44insT	ENSP00000387784.1:n.1858+43_1858+44insT
NM_005633.3:c.1858+43_1858+44insT , LRG_754t1:c.1858+43_1858+44insT	NP_005624.2:n.1858+43_1858+44insT
XM_005264515.3:c.1858+43_1858+44insT	XP_005264572.1:n.1858+43_1858+44insT
XM_011533060.1:c.1951+43_1951+44insT	XP_011531362.1:n.1951+43_1951+44insT
XM_011533061.1:c.1951+43_1951+44insT	XP_011531363.1:n.1951+43_1951+44insT
XM_011533062.1:c.1837+43_1837+44insT	XP_011531364.1:n.1837+43_1837+44insT
XM_011533063.1:c.1834+43_1834+44insT	XP_011531365.1:n.1834+43_1834+44insT
XM_011533064.1:c.1687+43_1687+44insT	XP_011531366.1:n.1687+43_1687+44insT
XM_011533065.1:c.1951+43_1951+44insT	XP_011531367.1:n.1951+43_1951+44insT
XM_011533066.1:c.793+43_793+44insT	XP_011531368.1:n.793+43_793+44insT
XM_005264515.4:c.1858+43_1858+44insT	XP_005264572.1:n.1858+43_1858+44insT
XM_011533062.2:c.1837+43_1837+44insT	XP_011531364.1:n.1837+43_1837+44insT
XM_011533064.2:c.1687+43_1687+44insT	XP_011531366.1:n.1687+43_1687+44insT
NM_001382394.1:c.1837+43_1837+44insT	NP_001369323.1:n.1837+43_1837+44insT
NM_001382395.1:c.1858+43_1858+44insT	NP_001369324.1:n.1858+43_1858+44insT
NM_005633.4:c.1858+43_1858+44insT MANE Select	NP_005624.2:n.1858+43_1858+44insT