Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC , CM000669.2:g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC	GRCh38
NC_000007.13:g.44184764_44184793delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC , CM000669.1:g.44184764_44184793delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC	GRCh37
NC_000007.12:g.44151289_44151318delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC	NCBI36
NG_008847.1:g.49230_49259delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
NG_008847.2:g.57977_58006delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1338_1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000379142.4:n.1338_1367delinsGGGGCGCGGCCCTGGTCTCGGCGG...
ENST00000616242.5:c.460_489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000482149.2:n.460_489delinsGGGGCGCGGCCCTGGTCTCGGCGGTG...
ENST00000683378.1:n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
ENST00000336642.9:c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000338009.5:p.Arg125=
ENST00000345378.7:c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000223366.2:p.Arg448=
ENST00000403799.8:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT MANE Select	ENSP00000384247.3:p.Arg447=
ENST00000671824.1:c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000500264.1:p.Arg468=
ENST00000672743.1:n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
ENST00000673284.1:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000499852.1:p.Arg447=
ENST00000336642.8:c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000338009.4:p.Arg131=
ENST00000345378.6:c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000223366.2:p.Arg448=
ENST00000395796.7:c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000379142.3:p.Arg446=
ENST00000403799.7:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000384247.3:p.Arg447=
ENST00000437084.1:c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000402840.1:p.Arg430=
ENST00000459642.1:n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
ENST00000616242.4:c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	ENSP00000482149.1:p.Arg446=
NM_000162.3:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_000153.1:p.Arg447=
NM_033507.1:c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277042.1:p.Arg448=
NM_033508.1:c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277043.1:p.Arg446=
NM_000162.4:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_000153.1:p.Arg447=
NM_001354800.1:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_001341729.1:p.Arg447=
NM_001354801.1:c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_001341730.1:p.Arg110=
NM_001354802.1:c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_001341731.1:p.Arg67=
NM_001354803.1:c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_001341732.1:p.Arg125=
NM_033507.2:c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277042.1:p.Arg448=
NM_033508.2:c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277043.1:p.Arg446=
XM_024446707.1:c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	XP_024302475.1:p.Arg67=
NM_000162.5:c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT MANE Select	NP_000153.1:p.Arg447=
NM_033507.3:c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277042.1:p.Arg448=
NM_033508.3:c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_277043.1:p.Arg446=
NM_001354803.2:c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT	NP_001341732.1:p.Arg125=