Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265666_82265667insTCGATATCCAGTGTCACGTTCTCGAATGGCTCTTGCATGCGGCCATCGATTTTACGGTTGATTACTTTAGGACGGGAAACCGCCAGCTCGAAACCTTCACGACGCATGTTTTCGATCAGAACCGACAG , CM000679.2:g.82265666_82265667insTCGATATCCAGTGTCACGTTCTCGAATGGCTCTTGCATGCGGCCATCGATTTTACGGTTGATTACTTTAGGACGGGAAACCGCCAGCTCGAAACCTTCACGACGCATGTTTTCGATCAGAACCGACAG	GRCh38
NC_000017.10:g.80223542_80223543insTCGATATCCAGTGTCACGTTCTCGAATGGCTCTTGCATGCGGCCATCGATTTTACGGTTGATTACTTTAGGACGGGAAACCGCCAGCTCGAAACCTTCACGACGCATGTTTTCGATCAGAACCGACAG , CM000679.1:g.80223542_80223543insTCGATATCCAGTGTCACGTTCTCGAATGGCTCTTGCATGCGGCCATCGATTTTACGGTTGATTACTTTAGGACGGGAAACCGCCAGCTCGAAACCTTCACGACGCATGTTTTCGATCAGAACCGACAG	GRCh37
NC_000017.9:g.77816831_77816832insTCGATATCCAGTGTCACGTTCTCGAATGGCTCTTGCATGCGGCCATCGATTTTACGGTTGATTACTTTAGGACGGGAAACCGCCAGCTCGAAACCTTCACGACGCATGTTTTCGATCAGAACCGACAG	NCBI36
NG_012828.1:g.13031_13032insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
NG_012828.2:g.13076_13077insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392334.7:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000376146.2:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000314028.11:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA MANE Select	ENSP00000324464.6:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000314028.10:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000324464.6:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000392334.6:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000376146.2:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000398519.9:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000381531.5:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000403276.7:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000385769.3:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGC...
ENST00000578194.5:n.393+19_393+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000579308.1:n.231_232insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000579316.5:n.244+19_244+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000580061.5:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000580446.1:c.76+7639_76+7640insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000463757.1:n.76+7639_76+7640insCTGTCGGTTCTGATCGAAAACAT...
ENST00000581241.5:n.175+19_175+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000581660.5:c.225+19_225+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000464551.1:n.225+19_225+20insCTGTCGGTTCTGATCGAAAACAT...
ENST00000582844.5:n.145+19_145+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000584472.5:n.272+19_272+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
ENST00000585026.1:c.233+19_233+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	ENSP00000462144.1:n.233+19_233+20insCTGTCGGTTCTGATCGAAAACAT...
NM_001893.4:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_001884.2:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...
NM_139062.2:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_620693.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...
NR_110578.1:n.548+19_548+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XM_005256336.2:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	XP_005256393.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTC...
XM_005256337.3:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	XP_005256394.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTC...
XR_243518.2:n.507+19_507+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_430028.2:n.507+19_507+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_933922.1:n.507+19_507+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_933923.1:n.507+19_507+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
NM_001363749.1:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_001350678.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTC...
NM_001893.5:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_001884.2:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...
NM_139062.3:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_620693.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...
NR_110578.2:n.556+19_556+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XM_005256336.4:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	XP_005256393.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTC...
XR_002957961.1:n.506+19_506+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_243518.4:n.506+19_506+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_430028.4:n.506+19_506+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_933922.3:n.506+19_506+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
XR_933923.3:n.506+19_506+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA
NM_001363749.2:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_001350678.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTC...
NM_001893.6:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA MANE Select	NP_001884.2:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...
NM_139062.4:c.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTGAAGGTTTCGAGCTGGCGGTTTCCCGTCCTAAAGTAATCAACCGTAAAATCGATGGCCGCATGCAAGAGCCATTCGAGAACGTGACACTGGATATCGA	NP_620693.1:n.187+19_187+20insCTGTCGGTTCTGATCGAAAACATGCGTCGTG...