Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34880584_34880589del , CM000683.2:g.34880584_34880589del	GRCh38
NC_000021.8:g.36252881_36252886del , CM000683.1:g.36252881_36252886del	GRCh37
NC_000021.7:g.35174751_35174756del	NCBI36
NG_011402.2:g.1109123_1109128del , LRG_482:g.1109123_1109128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.476_481del MANE Select	ENSP00000501943.1:p.Asn159_Leu161delinsIle
ENST00000300305.7:c.476_481del	ENSP00000300305.3:p.Asn159_Leu161delinsIle
ENST00000344691.8:c.395_400del	ENSP00000340690.4:p.Asn132_Leu134delinsIle
ENST00000358356.9:c.395_400del	ENSP00000351123.5:p.Asn132_Leu134delinsIle
ENST00000399237.6:c.440_445del	ENSP00000382182.2:p.Asn147_Leu149delinsIle
ENST00000399240.5:c.395_400del	ENSP00000382184.1:p.Asn132_Leu134delinsIle
ENST00000437180.5:c.476_481del	ENSP00000409227.1:p.Asn159_Leu161delinsIle
ENST00000482318.5:c.66_71del	ENSP00000477067.1:n.66_71del
NM_001001890.2:c.395_400del	NP_001001890.1:p.Asn132_Leu134delinsIle
NM_001122607.1:c.395_400del	NP_001116079.1:p.Asn132_Leu134delinsIle
NM_001754.4:c.476_481del , LRG_482t1:c.476_481del	NP_001745.2:p.Asn159_Leu161delinsIle
XM_005261068.3:c.440_445del	XP_005261125.1:p.Asn147_Leu149delinsIle
XM_005261069.3:c.476_481del	XP_005261126.1:p.Asn159_Leu161delinsIle
XM_011529766.1:c.476_481del	XP_011528068.1:p.Asn159_Leu161delinsIle
XM_011529767.1:c.437_442del	XP_011528069.1:p.Asn146_Leu148delinsIle
XM_011529768.1:c.437_442del	XP_011528070.1:p.Asn146_Leu148delinsIle
XM_011529770.1:c.476_481del	XP_011528072.1:p.Asn159_Leu161delinsIle
XR_937576.1:n.655_660del
XM_005261069.4:c.476_481del	XP_005261126.1:p.Asn159_Leu161delinsIle
XM_011529766.2:c.476_481del	XP_011528068.1:p.Asn159_Leu161delinsIle
XM_011529767.2:c.437_442del	XP_011528069.1:p.Asn146_Leu148delinsIle
XM_011529768.2:c.437_442del	XP_011528070.1:p.Asn146_Leu148delinsIle
XM_011529770.2:c.476_481del	XP_011528072.1:p.Asn159_Leu161delinsIle
XM_017028487.1:c.323_328del	XP_016883976.1:p.Asn108_Leu110delinsIle
XR_937576.2:n.702_707del
NM_001001890.3:c.395_400del	NP_001001890.1:p.Asn132_Leu134delinsIle
NM_001122607.2:c.395_400del	NP_001116079.1:p.Asn132_Leu134delinsIle
NM_001754.5:c.476_481del MANE Select	NP_001745.2:p.Asn159_Leu161delinsIle