Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904785del , CM000685.2:g.48904785del	GRCh38
NC_000023.10:g.48762062del , CM000685.1:g.48762062del	GRCh37
NC_000023.9:g.48647006del	NCBI36
NG_015967.1:g.11868del
NG_034300.1:g.12176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1126del MANE Select	ENSP00000247138.5:p.His376ThrfsTer18
ENST00000247138.10:c.1126del	ENSP00000247138.5:p.His376ThrfsTer18
ENST00000376515.8:c.464del	ENSP00000365698.3:p.Pro155HisfsTer19
ENST00000376521.6:c.1126del	ENSP00000365704.1:p.His376ThrfsTer17
ENST00000376529.8:c.536del	ENSP00000365712.3:p.Pro179HisfsTer22
ENST00000413561.7:c.688del
ENST00000445167.7:c.536del	ENSP00000402726.2:p.Pro179HisfsTer19
ENST00000452555.7:c.1210del	ENSP00000416002.2:p.His404ThrfsTer17
ENST00000616181.5:c.1165del	ENSP00000478617.1:p.His389ThrfsTer17
ENST00000635285.1:c.1126del	ENSP00000489484.1:p.His376ThrfsTer17
ENST00000635460.1:c.425-1318del
ENST00000635589.1:c.943del	ENSP00000489197.1:p.His315ThrfsTer17
ENST00000635628.1:c.*1020del	ENSP00000489613.1:n.*1020del
NM_001032289.2:c.536del	NP_001027460.1:p.Pro179HisfsTer19
NM_001042498.2:c.1126del	NP_001035963.1:p.His376ThrfsTer17
NM_001282647.1:c.536del	NP_001269576.1:p.Pro179HisfsTer22
NM_001282648.1:c.464del	NP_001269577.1:p.Pro155HisfsTer19
NM_001282649.1:c.943del	NP_001269578.1:p.His315ThrfsTer17
NM_001282650.1:c.1165del	NP_001269579.1:p.His389ThrfsTer17
NM_001282651.1:c.1210del	NP_001269580.1:p.His404ThrfsTer17
NM_005660.2:c.1126del	NP_005651.1:p.His376ThrfsTer18
NM_005660.3:c.1126del MANE Select	NP_005651.1:p.His376ThrfsTer18
NM_001032289.3:c.536del	NP_001027460.1:p.Pro179HisfsTer19
NM_001042498.3:c.1126del	NP_001035963.1:p.His376ThrfsTer17
NM_001282647.2:c.536del	NP_001269576.1:p.Pro179HisfsTer22
NM_001282649.2:c.943del	NP_001269578.1:p.His315ThrfsTer17
NM_001282650.2:c.1165del	NP_001269579.1:p.His389ThrfsTer17
NM_001282651.2:c.1210del	NP_001269580.1:p.His404ThrfsTer17
NM_001282648.2:c.464del	NP_001269577.1:p.Pro155HisfsTer19