Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.11846017_11846018insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG , CM000663.2:g.11846017_11846018insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG	GRCh38
NC_000001.10:g.11906074_11906075insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG , CM000663.1:g.11906074_11906075insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG	GRCh37
NC_000001.9:g.11828661_11828662insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG	NCBI36
NG_012926.1:g.6767_6768insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC , LRG_751:g.6767_6768insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC

HGVS	Amino-acid Change
ENST00000400892.3:c.1961+251_1961+252insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG (CLCN6)	ENSP00000496938.1:n.1961+251_1961+252insTTACAGCCCAGTCCGCTCT...
ENST00000446542.5:n.781+251_781+252insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG (NPPA-AS1)
ENST00000376476.1:c.301-3_301-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC (NPPA)	ENSP00000365659.1:n.301-3_301-2insGGAGATCCAGCTGCTTCGGGGGCAGGA...
ENST00000376480.7:c.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC (NPPA) MANE Select	ENSP00000365663.3:n.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGA...
ENST00000610706.1:c.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC (NPPA)	ENSP00000483195.1:n.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGA...
NM_006172.3:c.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC , LRG_751t1:c.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC (NPPA)	NP_006163.1:n.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACA...
NR_037806.1:n.1479+251_1479+252insTTACAGCCCAGTCCGCTCTGGGCTCCAATCCTGTCCATCCTGCCCCCGAAGCAGCTGGATCTCCG (NPPA-AS1)
NM_006172.4:c.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACAGGATTGGAGCCCAGAGCGGACTGGGCTGTAAC (NPPA) MANE Select	NP_006163.1:n.451-3_451-2insGGAGATCCAGCTGCTTCGGGGGCAGGATGGACA...