Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895923_226895925delinsTGC , CM000663.2:g.226895923_226895925delinsTGC	GRCh38
NC_000001.10:g.227083624_227083626delinsTGC , CM000663.1:g.227083624_227083626delinsTGC	GRCh37
NC_000001.9:g.225150247_225150249delinsTGC	NCBI36
NG_007381.1:g.30352_30354delinsTGC
NG_012825.2:g.3388_3390delinsTGC
NG_007381.2:g.30740_30742delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.344_346delinsTGC	ENSP00000355741.2:n.344_346delinsTGC
ENST00000366782.6:c.344_346delinsTGC	ENSP00000355746.2:n.344_346delinsTGC
ENST00000366783.8:c.344_346delinsTGC MANE Select	ENSP00000355747.3:n.344_346delinsTGC
ENST00000471728.2:n.2329_2331delinsTGC
ENST00000524196.6:c.344_346delinsTGC	ENSP00000429036.2:n.344_346delinsTGC
ENST00000626989.3:c.344_346delinsTGC	ENSP00000486498.2:n.344_346delinsTGC
ENST00000676467.1:c.1518_1520delinsTGC	ENSP00000504294.1:n.1518_1520delinsTGC
ENST00000676747.1:c.1189-1797_1189-1795delinsTGC	ENSP00000503244.1:n.1189-1797_1189-1795delinsTGC
ENST00000676884.1:c.344_346delinsTGC	ENSP00000503200.1:n.344_346delinsTGC
ENST00000676888.1:c.1032_1034delinsTGC	ENSP00000504483.1:n.1032_1034delinsTGC
ENST00000676907.1:c.1270_1272delinsTGC	ENSP00000504410.1:n.1270_1272delinsTGC
ENST00000676945.1:c.1191+1798_1191+1800delinsTGC	ENSP00000504433.1:n.1191+1798_1191+1800delinsTGC
ENST00000677065.1:n.2252_2254delinsTGC
ENST00000677414.1:c.344_346delinsTGC	ENSP00000503116.1:n.344_346delinsTGC
ENST00000677529.1:n.3421_3423delinsTGC
ENST00000677596.1:c.1913_1915delinsTGC	ENSP00000503618.1:n.1913_1915delinsTGC
ENST00000677599.1:c.1191+1798_1191+1800delinsTGC	ENSP00000503673.1:n.1191+1798_1191+1800delinsTGC
ENST00000677748.1:n.3946_3948delinsTGC
ENST00000677880.1:c.344_346delinsTGC	ENSP00000503121.1:n.344_346delinsTGC
ENST00000678021.1:c.1314_1316delinsTGC	ENSP00000504674.1:n.1314_1316delinsTGC
ENST00000678233.1:c.8+336_8+338delinsTGC	ENSP00000504728.1:n.8+336_8+338delinsTGC
ENST00000678320.1:c.344_346delinsTGC	ENSP00000503680.1:n.344_346delinsTGC
ENST00000678655.1:c.1093-1797_1093-1795delinsTGC	ENSP00000504230.1:n.1093-1797_1093-1795delinsTGC
ENST00000678706.1:c.1068_1070delinsTGC	ENSP00000503659.1:n.1068_1070delinsTGC
ENST00000678776.1:c.1828_1830delinsTGC	ENSP00000504624.1:n.1828_1830delinsTGC
ENST00000678784.1:c.1073-1797_1073-1795delinsTGC	ENSP00000504652.1:n.1073-1797_1073-1795delinsTGC
ENST00000678820.1:c.1090-1797_1090-1795delinsTGC	ENSP00000504138.1:n.1090-1797_1090-1795delinsTGC
ENST00000678835.1:c.757-1797_757-1795delinsTGC	ENSP00000504343.1:n.757-1797_757-1795delinsTGC
ENST00000679088.1:c.344_346delinsTGC	ENSP00000504727.1:n.344_346delinsTGC
ENST00000679098.1:c.8+336_8+338delinsTGC	ENSP00000504303.1:n.8+336_8+338delinsTGC
ENST00000366782.5:c.344_346delinsTGC	ENSP00000355746.1:n.344_346delinsTGC
ENST00000366783.7:c.344_346delinsTGC	ENSP00000355747.3:n.344_346delinsTGC
ENST00000626989.2:c.1790_1792delinsTGC	ENSP00000486498.1:n.1790_1792delinsTGC
NM_000447.2:c.344_346delinsTGC	NP_000438.2:n.344_346delinsTGC
NM_012486.2:c.344_346delinsTGC	NP_036618.2:n.344_346delinsTGC
XM_005273199.2:c.344_346delinsTGC	XP_005273256.1:n.344_346delinsTGC
XM_011544236.1:c.344_346delinsTGC	XP_011542538.1:n.344_346delinsTGC
XM_005273199.4:c.344_346delinsTGC	XP_005273256.1:n.344_346delinsTGC
XM_017001835.1:c.344_346delinsTGC	XP_016857324.1:n.344_346delinsTGC
XM_017001836.1:c.344_346delinsTGC	XP_016857325.1:n.344_346delinsTGC
XR_001737316.2:n.1478-1797_1478-1795delinsTGC
XR_001737317.2:n.1478-1797_1478-1795delinsTGC
XR_001737318.2:n.2406_2408delinsTGC
XR_001737319.1:n.2749_2751delinsTGC
XR_001737320.1:n.2746_2748delinsTGC
XR_001737321.1:n.2241_2243delinsTGC
XR_949149.2:n.2403_2405delinsTGC
XR_949150.3:n.2622_2624delinsTGC
NM_000447.3:c.344_346delinsTGC MANE Select	NP_000438.2:n.344_346delinsTGC
NM_012486.3:c.344_346delinsTGC	NP_036618.2:n.344_346delinsTGC

HGVS	Amino-acid Change
ENST00000366779.6:c.344_346delinsTGC	ENSP00000355741.2:n.344_346delinsTGC
ENST00000366782.6:c.344_346delinsTGC	ENSP00000355746.2:n.344_346delinsTGC
ENST00000366783.8:c.344_346delinsTGC MANE Select	ENSP00000355747.3:n.344_346delinsTGC
ENST00000471728.2:n.2329_2331delinsTGC
ENST00000524196.6:c.344_346delinsTGC	ENSP00000429036.2:n.344_346delinsTGC
ENST00000626989.3:c.344_346delinsTGC	ENSP00000486498.2:n.344_346delinsTGC
ENST00000676467.1:c.1518_1520delinsTGC	ENSP00000504294.1:n.1518_1520delinsTGC
ENST00000676747.1:c.1189-1797_1189-1795delinsTGC	ENSP00000503244.1:n.1189-1797_1189-1795delinsTGC
ENST00000676884.1:c.344_346delinsTGC	ENSP00000503200.1:n.344_346delinsTGC
ENST00000676888.1:c.1032_1034delinsTGC	ENSP00000504483.1:n.1032_1034delinsTGC
ENST00000676907.1:c.1270_1272delinsTGC	ENSP00000504410.1:n.1270_1272delinsTGC
ENST00000676945.1:c.1191+1798_1191+1800delinsTGC	ENSP00000504433.1:n.1191+1798_1191+1800delinsTGC
ENST00000677065.1:n.2252_2254delinsTGC
ENST00000677414.1:c.344_346delinsTGC	ENSP00000503116.1:n.344_346delinsTGC
ENST00000677529.1:n.3421_3423delinsTGC
ENST00000677596.1:c.1913_1915delinsTGC	ENSP00000503618.1:n.1913_1915delinsTGC
ENST00000677599.1:c.1191+1798_1191+1800delinsTGC	ENSP00000503673.1:n.1191+1798_1191+1800delinsTGC
ENST00000677748.1:n.3946_3948delinsTGC
ENST00000677880.1:c.344_346delinsTGC	ENSP00000503121.1:n.344_346delinsTGC
ENST00000678021.1:c.1314_1316delinsTGC	ENSP00000504674.1:n.1314_1316delinsTGC
ENST00000678233.1:c.8+336_8+338delinsTGC	ENSP00000504728.1:n.8+336_8+338delinsTGC
ENST00000678320.1:c.344_346delinsTGC	ENSP00000503680.1:n.344_346delinsTGC
ENST00000678655.1:c.1093-1797_1093-1795delinsTGC	ENSP00000504230.1:n.1093-1797_1093-1795delinsTGC
ENST00000678706.1:c.1068_1070delinsTGC	ENSP00000503659.1:n.1068_1070delinsTGC
ENST00000678776.1:c.1828_1830delinsTGC	ENSP00000504624.1:n.1828_1830delinsTGC
ENST00000678784.1:c.1073-1797_1073-1795delinsTGC	ENSP00000504652.1:n.1073-1797_1073-1795delinsTGC
ENST00000678820.1:c.1090-1797_1090-1795delinsTGC	ENSP00000504138.1:n.1090-1797_1090-1795delinsTGC
ENST00000678835.1:c.757-1797_757-1795delinsTGC	ENSP00000504343.1:n.757-1797_757-1795delinsTGC
ENST00000679088.1:c.344_346delinsTGC	ENSP00000504727.1:n.344_346delinsTGC
ENST00000679098.1:c.8+336_8+338delinsTGC	ENSP00000504303.1:n.8+336_8+338delinsTGC
ENST00000366782.5:c.344_346delinsTGC	ENSP00000355746.1:n.344_346delinsTGC
ENST00000366783.7:c.344_346delinsTGC	ENSP00000355747.3:n.344_346delinsTGC
ENST00000626989.2:c.1790_1792delinsTGC	ENSP00000486498.1:n.1790_1792delinsTGC
NM_000447.2:c.344_346delinsTGC	NP_000438.2:n.344_346delinsTGC
NM_012486.2:c.344_346delinsTGC	NP_036618.2:n.344_346delinsTGC
XM_005273199.2:c.344_346delinsTGC	XP_005273256.1:n.344_346delinsTGC
XM_011544236.1:c.344_346delinsTGC	XP_011542538.1:n.344_346delinsTGC
XM_005273199.4:c.344_346delinsTGC	XP_005273256.1:n.344_346delinsTGC
XM_017001835.1:c.344_346delinsTGC	XP_016857324.1:n.344_346delinsTGC
XM_017001836.1:c.344_346delinsTGC	XP_016857325.1:n.344_346delinsTGC
XR_001737316.2:n.1478-1797_1478-1795delinsTGC
XR_001737317.2:n.1478-1797_1478-1795delinsTGC
XR_001737318.2:n.2406_2408delinsTGC
XR_001737319.1:n.2749_2751delinsTGC
XR_001737320.1:n.2746_2748delinsTGC
XR_001737321.1:n.2241_2243delinsTGC
XR_949149.2:n.2403_2405delinsTGC
XR_949150.3:n.2622_2624delinsTGC
NM_000447.3:c.344_346delinsTGC MANE Select	NP_000438.2:n.344_346delinsTGC
NM_012486.3:c.344_346delinsTGC	NP_036618.2:n.344_346delinsTGC