Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145423_44145433delinsGGGAACCGCAA , CM000669.2:g.44145423_44145433delinsGGGAACCGCAA	GRCh38
NC_000007.13:g.44185022_44185032delinsGGGAACCGCAA , CM000669.1:g.44185022_44185032delinsGGGAACCGCAA	GRCh37
NC_000007.12:g.44151547_44151557delinsGGGAACCGCAA	NCBI36
NG_008847.1:g.48991_49001delinsTTGCGGTTCCC
NG_008847.2:g.57738_57748delinsTTGCGGTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1251+64_1251+74delinsTTGCGGTTCCC	ENSP00000379142.4:n.1251+64_1251+74delinsTTGCGGTTCCC
ENST00000616242.5:c.373+64_373+74delinsTTGCGGTTCCC	ENSP00000482149.2:n.373+64_373+74delinsTTGCGGTTCCC
ENST00000683378.1:n.479+64_479+74delinsTTGCGGTTCCC
ENST00000336642.9:c.287+64_287+74delinsTTGCGGTTCCC	ENSP00000338009.5:n.287+64_287+74delinsTTGCGGTTCCC
ENST00000345378.7:c.1256+64_1256+74delinsTTGCGGTTCCC	ENSP00000223366.2:n.1256+64_1256+74delinsTTGCGGTTCCC
ENST00000403799.8:c.1253+64_1253+74delinsTTGCGGTTCCC MANE Select	ENSP00000384247.3:n.1253+64_1253+74delinsTTGCGGTTCCC
ENST00000671824.1:c.1316+64_1316+74delinsTTGCGGTTCCC	ENSP00000500264.1:n.1316+64_1316+74delinsTTGCGGTTCCC
ENST00000672743.1:n.265+64_265+74delinsTTGCGGTTCCC
ENST00000673284.1:c.1253+64_1253+74delinsTTGCGGTTCCC	ENSP00000499852.1:n.1253+64_1253+74delinsTTGCGGTTCCC
ENST00000336642.8:c.305+64_305+74delinsTTGCGGTTCCC	ENSP00000338009.4:n.305+64_305+74delinsTTGCGGTTCCC
ENST00000345378.6:c.1256+64_1256+74delinsTTGCGGTTCCC	ENSP00000223366.2:n.1256+64_1256+74delinsTTGCGGTTCCC
ENST00000395796.7:c.1250+64_1250+74delinsTTGCGGTTCCC	ENSP00000379142.3:n.1250+64_1250+74delinsTTGCGGTTCCC
ENST00000403799.7:c.1253+64_1253+74delinsTTGCGGTTCCC	ENSP00000384247.3:n.1253+64_1253+74delinsTTGCGGTTCCC
ENST00000437084.1:c.1202+64_1202+74delinsTTGCGGTTCCC	ENSP00000402840.1:n.1202+64_1202+74delinsTTGCGGTTCCC
ENST00000459642.1:n.633+64_633+74delinsTTGCGGTTCCC
ENST00000616242.4:c.1250+64_1250+74delinsTTGCGGTTCCC	ENSP00000482149.1:n.1250+64_1250+74delinsTTGCGGTTCCC
NM_000162.3:c.1253+64_1253+74delinsTTGCGGTTCCC	NP_000153.1:n.1253+64_1253+74delinsTTGCGGTTCCC
NM_033507.1:c.1256+64_1256+74delinsTTGCGGTTCCC	NP_277042.1:n.1256+64_1256+74delinsTTGCGGTTCCC
NM_033508.1:c.1250+64_1250+74delinsTTGCGGTTCCC	NP_277043.1:n.1250+64_1250+74delinsTTGCGGTTCCC
NM_000162.4:c.1253+64_1253+74delinsTTGCGGTTCCC	NP_000153.1:n.1253+64_1253+74delinsTTGCGGTTCCC
NM_001354800.1:c.1253+64_1253+74delinsTTGCGGTTCCC	NP_001341729.1:n.1253+64_1253+74delinsTTGCGGTTCCC
NM_001354801.1:c.242+64_242+74delinsTTGCGGTTCCC	NP_001341730.1:n.242+64_242+74delinsTTGCGGTTCCC
NM_001354802.1:c.113+64_113+74delinsTTGCGGTTCCC	NP_001341731.1:n.113+64_113+74delinsTTGCGGTTCCC
NM_001354803.1:c.287+64_287+74delinsTTGCGGTTCCC	NP_001341732.1:n.287+64_287+74delinsTTGCGGTTCCC
NM_033507.2:c.1256+64_1256+74delinsTTGCGGTTCCC	NP_277042.1:n.1256+64_1256+74delinsTTGCGGTTCCC
NM_033508.2:c.1250+64_1250+74delinsTTGCGGTTCCC	NP_277043.1:n.1250+64_1250+74delinsTTGCGGTTCCC
XM_024446707.1:c.113+64_113+74delinsTTGCGGTTCCC	XP_024302475.1:n.113+64_113+74delinsTTGCGGTTCCC
NM_000162.5:c.1253+64_1253+74delinsTTGCGGTTCCC MANE Select	NP_000153.1:n.1253+64_1253+74delinsTTGCGGTTCCC
NM_033507.3:c.1256+64_1256+74delinsTTGCGGTTCCC	NP_277042.1:n.1256+64_1256+74delinsTTGCGGTTCCC
NM_033508.3:c.1250+64_1250+74delinsTTGCGGTTCCC	NP_277043.1:n.1250+64_1250+74delinsTTGCGGTTCCC
NM_001354803.2:c.287+64_287+74delinsTTGCGGTTCCC	NP_001341732.1:n.287+64_287+74delinsTTGCGGTTCCC