Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476770_47476771insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT , CM000664.2:g.47476770_47476771insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	GRCh38
NC_000002.11:g.47703909_47703910insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT , CM000664.1:g.47703909_47703910insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	GRCh37
NC_000002.10:g.47557413_47557414insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	NCBI36
NG_007110.2:g.78647_78648insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT , LRG_218:g.78647_78648insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000495641.2:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000233146.7:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT MANE Select	ENSP00000233146.2:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000543555.6:c.2012+199_2012+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000442697.1:n.2012+199_2012+200insCAGCGGGCGTTGATGCGGACG...
ENST00000644092.1:c.510+199_510+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000496351.1:n.510+199_510+200insCAGCGGGCGTTGATGCGGACG...
ENST00000644900.1:c.63+199_63+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT
ENST00000645339.1:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000496441.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000645506.1:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000495455.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000646415.1:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000495543.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000233146.6:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000233146.2:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000406134.5:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000384199.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
ENST00000543555.5:c.2012+199_2012+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000442697.1:n.2012+199_2012+200insCAGCGGGCGTTGATGCGGACG...
ENST00000610696.4:c.606+199_606+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000483159.1:n.606+199_606+200insCAGCGGGCGTTGATGCGGACG...
ENST00000613514.4:c.750+199_750+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000484137.1:n.750+199_750+200insCAGCGGGCGTTGATGCGGACG...
ENST00000617333.3:c.976+199_976+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000482468.1:n.976+199_976+200insCAGCGGGCGTTGATGCGGACG...
ENST00000617938.4:c.1182+199_1182+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000481158.1:n.1182+199_1182+200insCAGCGGGCGTTGATGCGGA...
ENST00000621359.2:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	ENSP00000481416.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACG...
NM_000251.2:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT , LRG_218t1:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	NP_000242.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGA...
NM_001258281.1:c.2012+199_2012+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	NP_001245210.1:n.2012+199_2012+200insCAGCGGGCGTTGATGCGGACGAAG...
XM_005264332.2:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	XP_005264389.2:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAG...
XM_011532867.1:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	XP_011531169.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAG...
XR_939685.1:n.2282+199_2282+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT
XM_005264332.4:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	XP_005264389.2:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAG...
XM_011532867.2:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT	XP_011531169.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAG...
XR_001738747.2:n.2272+199_2272+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT
XR_939685.2:n.2272+199_2272+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT
NM_000251.3:c.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGATGTTTATGGATCCTGAAGAGTTGCGACTCCAAGAGAGCGAGTCGGGCGCGCCACTTCGATAT MANE Select	NP_000242.1:n.2210+199_2210+200insCAGCGGGCGTTGATGCGGACGAAGTGA...