Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886894_34886905delinsGGAGCAGAGGAA , CM000683.2:g.34886894_34886905delinsGGAGCAGAGGAA	GRCh38
NC_000021.8:g.36259191_36259202delinsGGAGCAGAGGAA , CM000683.1:g.36259191_36259202delinsGGAGCAGAGGAA	GRCh37
NC_000021.7:g.35181061_35181072delinsGGAGCAGAGGAA	NCBI36
NG_011402.2:g.1102807_1102818delinsTTCCTCTGCTCC , LRG_482:g.1102807_1102818delinsTTCCTCTGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.289_300delinsTTCCTCTGCTCC MANE Select	ENSP00000501943.1:p.Phe97=
ENST00000300305.7:c.289_300delinsTTCCTCTGCTCC	ENSP00000300305.3:p.Phe97=
ENST00000344691.8:c.208_219delinsTTCCTCTGCTCC	ENSP00000340690.4:p.Phe70=
ENST00000358356.9:c.208_219delinsTTCCTCTGCTCC	ENSP00000351123.5:p.Phe70=
ENST00000399237.6:c.253_264delinsTTCCTCTGCTCC	ENSP00000382182.2:p.Phe85=
ENST00000399240.5:c.208_219delinsTTCCTCTGCTCC	ENSP00000382184.1:p.Phe70=
ENST00000437180.5:c.289_300delinsTTCCTCTGCTCC	ENSP00000409227.1:p.Phe97=
ENST00000455571.5:c.250_261delinsTTCCTCTGCTCC	ENSP00000388189.1:p.Phe84=
ENST00000482318.5:c.59-6192_59-6181delinsTTCCTCTGCTCC	ENSP00000477067.1:n.59-6192_59-6181delinsTTCCTCTGCTCC
NM_001001890.2:c.208_219delinsTTCCTCTGCTCC	NP_001001890.1:p.Phe70=
NM_001122607.1:c.208_219delinsTTCCTCTGCTCC	NP_001116079.1:p.Phe70=
NM_001754.4:c.289_300delinsTTCCTCTGCTCC , LRG_482t1:c.289_300delinsTTCCTCTGCTCC	NP_001745.2:p.Phe97=
XM_005261068.3:c.253_264delinsTTCCTCTGCTCC	XP_005261125.1:p.Phe85=
XM_005261069.3:c.289_300delinsTTCCTCTGCTCC	XP_005261126.1:p.Phe97=
XM_011529766.1:c.289_300delinsTTCCTCTGCTCC	XP_011528068.1:p.Phe97=
XM_011529767.1:c.250_261delinsTTCCTCTGCTCC	XP_011528069.1:p.Phe84=
XM_011529768.1:c.250_261delinsTTCCTCTGCTCC	XP_011528070.1:p.Phe84=
XM_011529770.1:c.289_300delinsTTCCTCTGCTCC	XP_011528072.1:p.Phe97=
XR_937576.1:n.468_479delinsTTCCTCTGCTCC
XM_005261069.4:c.289_300delinsTTCCTCTGCTCC	XP_005261126.1:p.Phe97=
XM_011529766.2:c.289_300delinsTTCCTCTGCTCC	XP_011528068.1:p.Phe97=
XM_011529767.2:c.250_261delinsTTCCTCTGCTCC	XP_011528069.1:p.Phe84=
XM_011529768.2:c.250_261delinsTTCCTCTGCTCC	XP_011528070.1:p.Phe84=
XM_011529770.2:c.289_300delinsTTCCTCTGCTCC	XP_011528072.1:p.Phe97=
XM_017028487.1:c.136_147delinsTTCCTCTGCTCC	XP_016883976.1:p.Phe46=
XR_937576.2:n.515_526delinsTTCCTCTGCTCC
NM_001001890.3:c.208_219delinsTTCCTCTGCTCC	NP_001001890.1:p.Phe70=
NM_001122607.2:c.208_219delinsTTCCTCTGCTCC	NP_001116079.1:p.Phe70=
NM_001754.5:c.289_300delinsTTCCTCTGCTCC MANE Select	NP_001745.2:p.Phe97=