Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895719_226895721del , CM000663.2:g.226895719_226895721del	GRCh38
NC_000001.10:g.227083420_227083422del , CM000663.1:g.227083420_227083422del	GRCh37
NC_000001.9:g.225150043_225150045del	NCBI36
NG_007381.1:g.30148_30150del
NG_012825.2:g.3184_3186del
NG_007381.2:g.30536_30538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.140_142del	ENSP00000355741.2:n.140_142del
ENST00000366782.6:c.140_142del	ENSP00000355746.2:n.140_142del
ENST00000366783.8:c.140_142del MANE Select	ENSP00000355747.3:n.140_142del
ENST00000471728.2:n.2125_2127del
ENST00000524196.6:c.140_142del	ENSP00000429036.2:n.140_142del
ENST00000626989.3:c.140_142del	ENSP00000486498.2:n.140_142del
ENST00000676467.1:c.1314_1316del	ENSP00000504294.1:n.1314_1316del
ENST00000676747.1:c.1188+1594_1188+1596del	ENSP00000503244.1:n.1188+1594_1188+1596del
ENST00000676884.1:c.140_142del	ENSP00000503200.1:n.140_142del
ENST00000676888.1:c.828_830del	ENSP00000504483.1:n.828_830del
ENST00000676907.1:c.1066_1068del	ENSP00000504410.1:n.1066_1068del
ENST00000676945.1:c.1191+1594_1191+1596del	ENSP00000504433.1:n.1191+1594_1191+1596del
ENST00000677065.1:n.2048_2050del
ENST00000677414.1:c.140_142del	ENSP00000503116.1:n.140_142del
ENST00000677529.1:n.3217_3219del
ENST00000677596.1:c.1709_1711del	ENSP00000503618.1:n.1709_1711del
ENST00000677599.1:c.1191+1594_1191+1596del	ENSP00000503673.1:n.1191+1594_1191+1596del
ENST00000677748.1:n.3742_3744del
ENST00000677880.1:c.140_142del	ENSP00000503121.1:n.140_142del
ENST00000678021.1:c.1110_1112del	ENSP00000504674.1:n.1110_1112del
ENST00000678233.1:c.8+132_8+134del	ENSP00000504728.1:n.8+132_8+134del
ENST00000678320.1:c.140_142del	ENSP00000503680.1:n.140_142del
ENST00000678655.1:c.1092+1594_1092+1596del	ENSP00000504230.1:n.1092+1594_1092+1596del
ENST00000678706.1:c.864_866del	ENSP00000503659.1:n.864_866del
ENST00000678776.1:c.1624_1626del	ENSP00000504624.1:n.1624_1626del
ENST00000678784.1:c.1073-2001_1073-1999del	ENSP00000504652.1:n.1073-2001_1073-1999del
ENST00000678820.1:c.1089+1594_1089+1596del	ENSP00000504138.1:n.1089+1594_1089+1596del
ENST00000678835.1:c.757-2001_757-1999del	ENSP00000504343.1:n.757-2001_757-1999del
ENST00000679088.1:c.140_142del	ENSP00000504727.1:n.140_142del
ENST00000679098.1:c.8+132_8+134del	ENSP00000504303.1:n.8+132_8+134del
ENST00000366782.5:c.140_142del	ENSP00000355746.1:n.140_142del
ENST00000366783.7:c.140_142del	ENSP00000355747.3:n.140_142del
ENST00000422240.6:c.140_142del	ENSP00000403737.2:n.140_142del
ENST00000626989.2:c.1586_1588del	ENSP00000486498.1:n.1586_1588del
NM_000447.2:c.140_142del	NP_000438.2:n.140_142del
NM_012486.2:c.140_142del	NP_036618.2:n.140_142del
XM_005273199.2:c.140_142del	XP_005273256.1:n.140_142del
XM_011544236.1:c.140_142del	XP_011542538.1:n.140_142del
XM_005273199.4:c.140_142del	XP_005273256.1:n.140_142del
XM_017001835.1:c.140_142del	XP_016857324.1:n.140_142del
XM_017001836.1:c.140_142del	XP_016857325.1:n.140_142del
XR_001737316.2:n.1478-2001_1478-1999del
XR_001737317.2:n.1478-2001_1478-1999del
XR_001737318.2:n.2202_2204del
XR_001737319.1:n.2545_2547del
XR_001737320.1:n.2542_2544del
XR_001737321.1:n.2037_2039del
XR_949149.2:n.2199_2201del
XR_949150.3:n.2418_2420del
NM_000447.3:c.140_142del MANE Select	NP_000438.2:n.140_142del
NM_012486.3:c.140_142del	NP_036618.2:n.140_142del

HGVS	Amino-acid Change
ENST00000366779.6:c.140_142del	ENSP00000355741.2:n.140_142del
ENST00000366782.6:c.140_142del	ENSP00000355746.2:n.140_142del
ENST00000366783.8:c.140_142del MANE Select	ENSP00000355747.3:n.140_142del
ENST00000471728.2:n.2125_2127del
ENST00000524196.6:c.140_142del	ENSP00000429036.2:n.140_142del
ENST00000626989.3:c.140_142del	ENSP00000486498.2:n.140_142del
ENST00000676467.1:c.1314_1316del	ENSP00000504294.1:n.1314_1316del
ENST00000676747.1:c.1188+1594_1188+1596del	ENSP00000503244.1:n.1188+1594_1188+1596del
ENST00000676884.1:c.140_142del	ENSP00000503200.1:n.140_142del
ENST00000676888.1:c.828_830del	ENSP00000504483.1:n.828_830del
ENST00000676907.1:c.1066_1068del	ENSP00000504410.1:n.1066_1068del
ENST00000676945.1:c.1191+1594_1191+1596del	ENSP00000504433.1:n.1191+1594_1191+1596del
ENST00000677065.1:n.2048_2050del
ENST00000677414.1:c.140_142del	ENSP00000503116.1:n.140_142del
ENST00000677529.1:n.3217_3219del
ENST00000677596.1:c.1709_1711del	ENSP00000503618.1:n.1709_1711del
ENST00000677599.1:c.1191+1594_1191+1596del	ENSP00000503673.1:n.1191+1594_1191+1596del
ENST00000677748.1:n.3742_3744del
ENST00000677880.1:c.140_142del	ENSP00000503121.1:n.140_142del
ENST00000678021.1:c.1110_1112del	ENSP00000504674.1:n.1110_1112del
ENST00000678233.1:c.8+132_8+134del	ENSP00000504728.1:n.8+132_8+134del
ENST00000678320.1:c.140_142del	ENSP00000503680.1:n.140_142del
ENST00000678655.1:c.1092+1594_1092+1596del	ENSP00000504230.1:n.1092+1594_1092+1596del
ENST00000678706.1:c.864_866del	ENSP00000503659.1:n.864_866del
ENST00000678776.1:c.1624_1626del	ENSP00000504624.1:n.1624_1626del
ENST00000678784.1:c.1073-2001_1073-1999del	ENSP00000504652.1:n.1073-2001_1073-1999del
ENST00000678820.1:c.1089+1594_1089+1596del	ENSP00000504138.1:n.1089+1594_1089+1596del
ENST00000678835.1:c.757-2001_757-1999del	ENSP00000504343.1:n.757-2001_757-1999del
ENST00000679088.1:c.140_142del	ENSP00000504727.1:n.140_142del
ENST00000679098.1:c.8+132_8+134del	ENSP00000504303.1:n.8+132_8+134del
ENST00000366782.5:c.140_142del	ENSP00000355746.1:n.140_142del
ENST00000366783.7:c.140_142del	ENSP00000355747.3:n.140_142del
ENST00000422240.6:c.140_142del	ENSP00000403737.2:n.140_142del
ENST00000626989.2:c.1586_1588del	ENSP00000486498.1:n.1586_1588del
NM_000447.2:c.140_142del	NP_000438.2:n.140_142del
NM_012486.2:c.140_142del	NP_036618.2:n.140_142del
XM_005273199.2:c.140_142del	XP_005273256.1:n.140_142del
XM_011544236.1:c.140_142del	XP_011542538.1:n.140_142del
XM_005273199.4:c.140_142del	XP_005273256.1:n.140_142del
XM_017001835.1:c.140_142del	XP_016857324.1:n.140_142del
XM_017001836.1:c.140_142del	XP_016857325.1:n.140_142del
XR_001737316.2:n.1478-2001_1478-1999del
XR_001737317.2:n.1478-2001_1478-1999del
XR_001737318.2:n.2202_2204del
XR_001737319.1:n.2545_2547del
XR_001737320.1:n.2542_2544del
XR_001737321.1:n.2037_2039del
XR_949149.2:n.2199_2201del
XR_949150.3:n.2418_2420del
NM_000447.3:c.140_142del MANE Select	NP_000438.2:n.140_142del
NM_012486.3:c.140_142del	NP_036618.2:n.140_142del