Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391622_113391623insTTGGCCCGCAGAACCTACAAACCTTT , CM000671.2:g.113391622_113391623insTTGGCCCGCAGAACCTACAAACCTTT	GRCh38
NC_000009.11:g.116153902_116153903insTTGGCCCGCAGAACCTACAAACCTTT , CM000671.1:g.116153902_116153903insTTGGCCCGCAGAACCTACAAACCTTT	GRCh37
NC_000009.10:g.115193723_115193724insTTGGCCCGCAGAACCTACAAACCTTT	NCBI36
NG_008716.1:g.14716_14717insAAAGGTTTGTAGGTTCTGCGGGCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.165_166insAAAGGTTTGTAGGTTCTGCGGGCCAA MANE Select	ENSP00000386284.3:p.Tyr56LysfsTer4
ENST00000409155.7:c.165_166insAAAGGTTTGTAGGTTCTGCGGGCCAA	ENSP00000386284.3:p.Tyr56LysfsTer4
ENST00000448137.5:c.192_193insAAAGGTTTGTAGGTTCTGCGGGCCAA	ENSP00000392748.1:p.Tyr65LysfsTer4
ENST00000464749.5:n.258-690_258-689insAAAGGTTTGTAGGTTCTGCGGGCCAA
ENST00000468504.5:n.287_288insAAAGGTTTGTAGGTTCTGCGGGCCAA
ENST00000482001.1:n.438_439insAAAGGTTTGTAGGTTCTGCGGGCCAA
ENST00000482847.5:n.438_439insAAAGGTTTGTAGGTTCTGCGGGCCAA
NM_000031.5:c.165_166insAAAGGTTTGTAGGTTCTGCGGGCCAA	NP_000022.3:p.Tyr56LysfsTer4
XM_005251799.1:c.252_253insAAAGGTTTGTAGGTTCTGCGGGCCAA	XP_005251856.1:p.Tyr85LysfsTer4
XM_011518363.1:c.291_292insAAAGGTTTGTAGGTTCTGCGGGCCAA	XP_011516665.1:p.Tyr98LysfsTer4
XM_011518364.1:c.192_193insAAAGGTTTGTAGGTTCTGCGGGCCAA	XP_011516666.1:p.Tyr65LysfsTer4
NM_001003945.2:c.252_253insAAAGGTTTGTAGGTTCTGCGGGCCAA	NP_001003945.1:p.Tyr85LysfsTer4
NM_001317745.1:c.141_142insAAAGGTTTGTAGGTTCTGCGGGCCAA	NP_001304674.1:p.Tyr48LysfsTer4
XM_011518364.2:c.192_193insAAAGGTTTGTAGGTTCTGCGGGCCAA	XP_011516666.1:p.Tyr65LysfsTer4
XM_024447449.1:c.252_253insAAAGGTTTGTAGGTTCTGCGGGCCAA	XP_024303217.1:p.Tyr85LysfsTer4
XR_002956764.1:n.665_666insAAAGGTTTGTAGGTTCTGCGGGCCAA
NM_000031.6:c.165_166insAAAGGTTTGTAGGTTCTGCGGGCCAA MANE Select	NP_000022.3:p.Tyr56LysfsTer4
NM_001003945.3:c.252_253insAAAGGTTTGTAGGTTCTGCGGGCCAA	NP_001003945.1:p.Tyr85LysfsTer4
NM_001317745.2:c.141_142insAAAGGTTTGTAGGTTCTGCGGGCCAA	NP_001304674.1:p.Tyr48LysfsTer4