Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076105_65076117delinsCCCCGGGCATGTG , CM000676.2:g.65076105_65076117delinsCCCCGGGCATGTG	GRCh38
NC_000014.8:g.65542823_65542835delinsCCCCGGGCATGTG , CM000676.1:g.65542823_65542835delinsCCCCGGGCATGTG	GRCh37
NC_000014.7:g.64612576_64612588delinsCCCCGGGCATGTG	NCBI36
NG_029830.1:g.31393_31405delinsCACATGCCCGGGG , LRG_530:g.31393_31405delinsCACATGCCCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.359_371delinsCACATGCCCGGGG	ENSP00000452206.2:n.359_371delinsCACATGCCCGGGG
ENST00000556979.6:c.1295_1307delinsCACATGCCCGGGG	ENSP00000452378.1:n.1295_1307delinsCACATGCCCGGGG
ENST00000358664.9:c.359_371delinsCACATGCCCGGGG MANE Select	ENSP00000351490.4:n.359_371delinsCACATGCCCGGGG
ENST00000651648.1:c.145-5748_145-5736delinsCACATGCCCGGGG	ENSP00000498863.1:n.145-5748_145-5736delinsCACATGCCCGGGG
ENST00000284165.10:c.1686_1698delinsCACATGCCCGGGG	ENSP00000284165.6:n.1686_1698delinsCACATGCCCGGGG
ENST00000341653.6:c.171+17591_171+17603delinsCACATGCCCGGGG	ENSP00000342482.2:n.171+17591_171+17603delinsCACATGCCCGGGG
ENST00000358402.8:c.359_371delinsCACATGCCCGGGG	ENSP00000351175.4:n.359_371delinsCACATGCCCGGGG
ENST00000358664.8:c.359_371delinsCACATGCCCGGGG	ENSP00000351490.4:n.359_371delinsCACATGCCCGGGG
ENST00000394606.6:c.615_627delinsCACATGCCCGGGG	ENSP00000378104.2:n.615_627delinsCACATGCCCGGGG
ENST00000555419.5:c.734_746delinsCACATGCCCGGGG	ENSP00000452405.1:n.734_746delinsCACATGCCCGGGG
ENST00000555932.5:c.334_346delinsCACATGCCCGGGG	ENSP00000450763.1:n.334_346delinsCACATGCCCGGGG
ENST00000618858.4:c.631_643delinsCACATGCCCGGGG	ENSP00000480127.1:n.631_643delinsCACATGCCCGGGG
NM_001271069.1:c.144+17591_144+17603delinsCACATGCCCGGGG	NP_001257998.1:n.144+17591_144+17603delinsCACATGCCCGGGG
NM_002382.4:c.359_371delinsCACATGCCCGGGG	NP_002373.3:n.359_371delinsCACATGCCCGGGG
NM_145112.2:c.359_371delinsCACATGCCCGGGG	NP_660087.1:n.359_371delinsCACATGCCCGGGG
NM_145113.2:c.631_643delinsCACATGCCCGGGG	NP_660088.1:n.631_643delinsCACATGCCCGGGG
NM_197957.3:c.171+17591_171+17603delinsCACATGCCCGGGG	NP_932061.1:n.171+17591_171+17603delinsCACATGCCCGGGG
NR_073137.1:n.966_978delinsCACATGCCCGGGG
XR_429315.2:n.1129_1141delinsCACATGCCCGGGG
NM_001320415.1:c.359_371delinsCACATGCCCGGGG	NP_001307344.1:n.359_371delinsCACATGCCCGGGG
XM_017021312.2:c.359_371delinsCACATGCCCGGGG	XP_016876801.1:n.359_371delinsCACATGCCCGGGG
XM_017021313.1:c.359_371delinsCACATGCCCGGGG	XP_016876802.1:n.359_371delinsCACATGCCCGGGG
XR_001750326.2:n.1187_1199delinsCACATGCCCGGGG
XR_001750327.2:n.1106_1118delinsCACATGCCCGGGG
XR_002957553.1:n.1620_1632delinsCACATGCCCGGGG
XR_943450.3:n.1210_1222delinsCACATGCCCGGGG
XR_943451.3:n.1226_1238delinsCACATGCCCGGGG
XR_943452.3:n.1171_1183delinsCACATGCCCGGGG
NM_001320415.2:c.359_371delinsCACATGCCCGGGG	NP_001307344.1:n.359_371delinsCACATGCCCGGGG
NM_002382.5:c.359_371delinsCACATGCCCGGGG MANE Select	NP_002373.3:n.359_371delinsCACATGCCCGGGG
NM_145112.3:c.359_371delinsCACATGCCCGGGG	NP_660087.1:n.359_371delinsCACATGCCCGGGG
NM_145113.3:c.631_643delinsCACATGCCCGGGG	NP_660088.1:n.631_643delinsCACATGCCCGGGG
NM_001271069.2:c.144+17591_144+17603delinsCACATGCCCGGGG	NP_001257998.1:n.144+17591_144+17603delinsCACATGCCCGGGG
NM_197957.4:c.171+17591_171+17603delinsCACATGCCCGGGG	NP_932061.1:n.171+17591_171+17603delinsCACATGCCCGGGG

HGVS	Amino-acid Change
ENST00000556892.6:c.359_371delinsCACATGCCCGGGG	ENSP00000452206.2:n.359_371delinsCACATGCCCGGGG
ENST00000556979.6:c.1295_1307delinsCACATGCCCGGGG	ENSP00000452378.1:n.1295_1307delinsCACATGCCCGGGG
ENST00000358664.9:c.359_371delinsCACATGCCCGGGG MANE Select	ENSP00000351490.4:n.359_371delinsCACATGCCCGGGG
ENST00000651648.1:c.145-5748_145-5736delinsCACATGCCCGGGG	ENSP00000498863.1:n.145-5748_145-5736delinsCACATGCCCGGGG
ENST00000284165.10:c.1686_1698delinsCACATGCCCGGGG	ENSP00000284165.6:n.1686_1698delinsCACATGCCCGGGG
ENST00000341653.6:c.171+17591_171+17603delinsCACATGCCCGGGG	ENSP00000342482.2:n.171+17591_171+17603delinsCACATGCCCGGGG
ENST00000358402.8:c.359_371delinsCACATGCCCGGGG	ENSP00000351175.4:n.359_371delinsCACATGCCCGGGG
ENST00000358664.8:c.359_371delinsCACATGCCCGGGG	ENSP00000351490.4:n.359_371delinsCACATGCCCGGGG
ENST00000394606.6:c.615_627delinsCACATGCCCGGGG	ENSP00000378104.2:n.615_627delinsCACATGCCCGGGG
ENST00000555419.5:c.734_746delinsCACATGCCCGGGG	ENSP00000452405.1:n.734_746delinsCACATGCCCGGGG
ENST00000555932.5:c.334_346delinsCACATGCCCGGGG	ENSP00000450763.1:n.334_346delinsCACATGCCCGGGG
ENST00000618858.4:c.631_643delinsCACATGCCCGGGG	ENSP00000480127.1:n.631_643delinsCACATGCCCGGGG
NM_001271069.1:c.144+17591_144+17603delinsCACATGCCCGGGG	NP_001257998.1:n.144+17591_144+17603delinsCACATGCCCGGGG
NM_002382.4:c.359_371delinsCACATGCCCGGGG	NP_002373.3:n.359_371delinsCACATGCCCGGGG
NM_145112.2:c.359_371delinsCACATGCCCGGGG	NP_660087.1:n.359_371delinsCACATGCCCGGGG
NM_145113.2:c.631_643delinsCACATGCCCGGGG	NP_660088.1:n.631_643delinsCACATGCCCGGGG
NM_197957.3:c.171+17591_171+17603delinsCACATGCCCGGGG	NP_932061.1:n.171+17591_171+17603delinsCACATGCCCGGGG
NR_073137.1:n.966_978delinsCACATGCCCGGGG
XR_429315.2:n.1129_1141delinsCACATGCCCGGGG
NM_001320415.1:c.359_371delinsCACATGCCCGGGG	NP_001307344.1:n.359_371delinsCACATGCCCGGGG
XM_017021312.2:c.359_371delinsCACATGCCCGGGG	XP_016876801.1:n.359_371delinsCACATGCCCGGGG
XM_017021313.1:c.359_371delinsCACATGCCCGGGG	XP_016876802.1:n.359_371delinsCACATGCCCGGGG
XR_001750326.2:n.1187_1199delinsCACATGCCCGGGG
XR_001750327.2:n.1106_1118delinsCACATGCCCGGGG
XR_002957553.1:n.1620_1632delinsCACATGCCCGGGG
XR_943450.3:n.1210_1222delinsCACATGCCCGGGG
XR_943451.3:n.1226_1238delinsCACATGCCCGGGG
XR_943452.3:n.1171_1183delinsCACATGCCCGGGG
NM_001320415.2:c.359_371delinsCACATGCCCGGGG	NP_001307344.1:n.359_371delinsCACATGCCCGGGG
NM_002382.5:c.359_371delinsCACATGCCCGGGG MANE Select	NP_002373.3:n.359_371delinsCACATGCCCGGGG
NM_145112.3:c.359_371delinsCACATGCCCGGGG	NP_660087.1:n.359_371delinsCACATGCCCGGGG
NM_145113.3:c.631_643delinsCACATGCCCGGGG	NP_660088.1:n.631_643delinsCACATGCCCGGGG
NM_001271069.2:c.144+17591_144+17603delinsCACATGCCCGGGG	NP_001257998.1:n.144+17591_144+17603delinsCACATGCCCGGGG
NM_197957.4:c.171+17591_171+17603delinsCACATGCCCGGGG	NP_932061.1:n.171+17591_171+17603delinsCACATGCCCGGGG