Allele Registry

HGVS	Genome Assembly
NC_000017.11:g.1651116_1651117insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT , CM000679.2:g.1651116_1651117insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT	GRCh38
NC_000017.10:g.1554410_1554411insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT , CM000679.1:g.1554410_1554411insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT	GRCh37
NC_000017.9:g.1501160_1501161insGGTGCCATCCTACGTTACCCCATGCGTTGAGGAACTCTCTT	NCBI36
NG_009118.1:g.38767_38768insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA
NG_033061.1:g.3983_3984insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA

HGVS	Amino-acid Change
ENST00000573725.2:c.6665_6666insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000460849.2:p.Asn2222LysfsTer11
ENST00000703537.1:c.2593_2594insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA
ENST00000703538.1:c.6568_6569insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000515361.1:n.6568_6569insAGAGAGTTCCTCAACGCATGGGGTAAC...
ENST00000703539.1:n.3159_3160insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA
ENST00000703540.1:c.6698_6699insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000515362.1:p.Asn2233LysfsTer11
ENST00000703541.1:c.6710_6711insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000515363.1:p.Asn2237LysfsTer11
ENST00000304992.11:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA MANE Select	ENSP00000304350.6:p.Asn2282LysfsTer11
ENST00000304992.10:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000304350.6:p.Asn2282LysfsTer11
ENST00000571958.1:c.154_155insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA
ENST00000572621.5:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	ENSP00000460348.1:p.Asn2282LysfsTer11
ENST00000572723.1:n.834_835insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA
NM_006445.3:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	NP_006436.3:p.Asn2282LysfsTer11
XM_024450537.1:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA	XP_024306305.1:p.Asn2282LysfsTer11
NM_006445.4:c.6845_6846insAGAGAGTTCCTCAACGCATGGGGTAACGTAGGATGGCACCA MANE Select	NP_006436.3:p.Asn2282LysfsTer11