Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886904_34886906dup , CM000683.2:g.34886904_34886906dup	GRCh38
NC_000021.8:g.36259201_36259203dup , CM000683.1:g.36259201_36259203dup	GRCh37
NC_000021.7:g.35181071_35181073dup	NCBI36
NG_011402.2:g.1102807_1102809dup , LRG_482:g.1102807_1102809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.289_291dup MANE Select	ENSP00000501943.1:p.Phe97_Leu98insPhe
ENST00000300305.7:c.289_291dup	ENSP00000300305.3:p.Phe97_Leu98insPhe
ENST00000344691.8:c.208_210dup	ENSP00000340690.4:p.Phe70_Leu71insPhe
ENST00000358356.9:c.208_210dup	ENSP00000351123.5:p.Phe70_Leu71insPhe
ENST00000399237.6:c.253_255dup	ENSP00000382182.2:p.Phe85_Leu86insPhe
ENST00000399240.5:c.208_210dup	ENSP00000382184.1:p.Phe70_Leu71insPhe
ENST00000437180.5:c.289_291dup	ENSP00000409227.1:p.Phe97_Leu98insPhe
ENST00000455571.5:c.250_252dup	ENSP00000388189.1:p.Phe84_Leu85insPhe
ENST00000482318.5:c.59-6192_59-6190dup	ENSP00000477067.1:n.59-6192_59-6190dup
NM_001001890.2:c.208_210dup	NP_001001890.1:p.Phe70_Leu71insPhe
NM_001122607.1:c.208_210dup	NP_001116079.1:p.Phe70_Leu71insPhe
NM_001754.4:c.289_291dup , LRG_482t1:c.289_291dup	NP_001745.2:p.Phe97_Leu98insPhe
XM_005261068.3:c.253_255dup	XP_005261125.1:p.Phe85_Leu86insPhe
XM_005261069.3:c.289_291dup	XP_005261126.1:p.Phe97_Leu98insPhe
XM_011529766.1:c.289_291dup	XP_011528068.1:p.Phe97_Leu98insPhe
XM_011529767.1:c.250_252dup	XP_011528069.1:p.Phe84_Leu85insPhe
XM_011529768.1:c.250_252dup	XP_011528070.1:p.Phe84_Leu85insPhe
XM_011529770.1:c.289_291dup	XP_011528072.1:p.Phe97_Leu98insPhe
XR_937576.1:n.468_470dup
XM_005261069.4:c.289_291dup	XP_005261126.1:p.Phe97_Leu98insPhe
XM_011529766.2:c.289_291dup	XP_011528068.1:p.Phe97_Leu98insPhe
XM_011529767.2:c.250_252dup	XP_011528069.1:p.Phe84_Leu85insPhe
XM_011529768.2:c.250_252dup	XP_011528070.1:p.Phe84_Leu85insPhe
XM_011529770.2:c.289_291dup	XP_011528072.1:p.Phe97_Leu98insPhe
XM_017028487.1:c.136_138dup	XP_016883976.1:p.Phe46_Leu47insPhe
XR_937576.2:n.515_517dup
NM_001001890.3:c.208_210dup	NP_001001890.1:p.Phe70_Leu71insPhe
NM_001122607.2:c.208_210dup	NP_001116079.1:p.Phe70_Leu71insPhe
NM_001754.5:c.289_291dup MANE Select	NP_001745.2:p.Phe97_Leu98insPhe