Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995812_47995815delinsACAT , CM000674.2:g.47995812_47995815delinsACAT	GRCh38
NC_000012.11:g.48389595_48389598delinsACAT , CM000674.1:g.48389595_48389598delinsACAT	GRCh37
NC_000012.10:g.46675862_46675865delinsACAT	NCBI36
NG_008072.1:g.13688_13691delinsATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.448-52_448-49delinsATGT	ENSP00000338213.6:n.448-52_448-49delinsATGT
ENST00000380518.8:c.655-52_655-49delinsATGT MANE Select	ENSP00000369889.3:n.655-52_655-49delinsATGT
ENST00000337299.6:c.448-52_448-49delinsATGT	ENSP00000338213.6:n.448-52_448-49delinsATGT
ENST00000380518.7:c.655-52_655-49delinsATGT	ENSP00000369889.3:n.655-52_655-49delinsATGT
NM_001844.4:c.655-52_655-49delinsATGT	NP_001835.3:n.655-52_655-49delinsATGT
NM_033150.2:c.448-52_448-49delinsATGT	NP_149162.2:n.448-52_448-49delinsATGT
XM_006719242.2:c.799-52_799-49delinsATGT	XP_006719305.2:n.799-52_799-49delinsATGT
XM_011537928.1:c.799-52_799-49delinsATGT	XP_011536230.1:n.799-52_799-49delinsATGT
XM_011537929.1:c.799-52_799-49delinsATGT	XP_011536231.1:n.799-52_799-49delinsATGT
XM_011537930.1:c.799-52_799-49delinsATGT	XP_011536232.1:n.799-52_799-49delinsATGT
XM_011537931.1:c.799-52_799-49delinsATGT	XP_011536233.1:n.799-52_799-49delinsATGT
XM_011537932.1:c.799-52_799-49delinsATGT	XP_011536234.1:n.799-52_799-49delinsATGT
XM_011537933.1:c.799-52_799-49delinsATGT	XP_011536235.1:n.799-52_799-49delinsATGT
XM_011537934.1:c.796-52_796-49delinsATGT	XP_011536236.1:n.796-52_796-49delinsATGT
XM_017018828.1:c.799-52_799-49delinsATGT	XP_016874317.1:n.799-52_799-49delinsATGT
XM_017018829.1:c.796-52_796-49delinsATGT	XP_016874318.1:n.796-52_796-49delinsATGT
XM_017018830.1:c.589-52_589-49delinsATGT	XP_016874319.1:n.589-52_589-49delinsATGT
XM_017018831.2:c.109-52_109-49delinsATGT	XP_016874320.1:n.109-52_109-49delinsATGT
NM_001844.5:c.655-52_655-49delinsATGT MANE Select	NP_001835.3:n.655-52_655-49delinsATGT
NM_033150.3:c.448-52_448-49delinsATGT	NP_149162.2:n.448-52_448-49delinsATGT