Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880621_34880623dup , CM000683.2:g.34880621_34880623dup	GRCh38
NC_000021.8:g.36252918_36252920dup , CM000683.1:g.36252918_36252920dup	GRCh37
NC_000021.7:g.35174788_35174790dup	NCBI36
NG_011402.2:g.1109089_1109091dup , LRG_482:g.1109089_1109091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.442_444dup MANE Select	ENSP00000501943.1:p.Thr148_Ala149insThr
ENST00000300305.7:c.442_444dup	ENSP00000300305.3:p.Thr148_Ala149insThr
ENST00000344691.8:c.361_363dup	ENSP00000340690.4:p.Thr121_Ala122insThr
ENST00000358356.9:c.361_363dup	ENSP00000351123.5:p.Thr121_Ala122insThr
ENST00000399237.6:c.406_408dup	ENSP00000382182.2:p.Thr136_Ala137insThr
ENST00000399240.5:c.361_363dup	ENSP00000382184.1:p.Thr121_Ala122insThr
ENST00000437180.5:c.442_444dup	ENSP00000409227.1:p.Thr148_Ala149insThr
ENST00000455571.5:c.403_405dup	ENSP00000388189.1:p.Thr135_Ala136insThr
ENST00000482318.5:c.32_34dup	ENSP00000477067.1:n.32_34dup
NM_001001890.2:c.361_363dup	NP_001001890.1:p.Thr121_Ala122insThr
NM_001122607.1:c.361_363dup	NP_001116079.1:p.Thr121_Ala122insThr
NM_001754.4:c.442_444dup , LRG_482t1:c.442_444dup	NP_001745.2:p.Thr148_Ala149insThr
XM_005261068.3:c.406_408dup	XP_005261125.1:p.Thr136_Ala137insThr
XM_005261069.3:c.442_444dup	XP_005261126.1:p.Thr148_Ala149insThr
XM_011529766.1:c.442_444dup	XP_011528068.1:p.Thr148_Ala149insThr
XM_011529767.1:c.403_405dup	XP_011528069.1:p.Thr135_Ala136insThr
XM_011529768.1:c.403_405dup	XP_011528070.1:p.Thr135_Ala136insThr
XM_011529770.1:c.442_444dup	XP_011528072.1:p.Thr148_Ala149insThr
XR_937576.1:n.621_623dup
XM_005261069.4:c.442_444dup	XP_005261126.1:p.Thr148_Ala149insThr
XM_011529766.2:c.442_444dup	XP_011528068.1:p.Thr148_Ala149insThr
XM_011529767.2:c.403_405dup	XP_011528069.1:p.Thr135_Ala136insThr
XM_011529768.2:c.403_405dup	XP_011528070.1:p.Thr135_Ala136insThr
XM_011529770.2:c.442_444dup	XP_011528072.1:p.Thr148_Ala149insThr
XM_017028487.1:c.289_291dup	XP_016883976.1:p.Thr97_Ala98insThr
XR_937576.2:n.668_670dup
NM_001001890.3:c.361_363dup	NP_001001890.1:p.Thr121_Ala122insThr
NM_001122607.2:c.361_363dup	NP_001116079.1:p.Thr121_Ala122insThr
NM_001754.5:c.442_444dup MANE Select	NP_001745.2:p.Thr148_Ala149insThr