Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075337_65075338delinsAC , CM000676.2:g.65075337_65075338delinsAC	GRCh38
NC_000014.8:g.65542055_65542056delinsAC , CM000676.1:g.65542055_65542056delinsAC	GRCh37
NC_000014.7:g.64611808_64611809delinsAC	NCBI36
NG_029830.1:g.32172_32173delinsGT , LRG_530:g.32172_32173delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.2074_2075delinsGT	ENSP00000452378.1:n.2074_2075delinsGT
ENST00000358664.9:c.1138_1139delinsGT MANE Select	ENSP00000351490.4:n.1138_1139delinsGT
ENST00000651648.1:c.145-4969_145-4968delinsGT	ENSP00000498863.1:n.145-4969_145-4968delinsGT
ENST00000284165.10:c.2465_2466delinsGT	ENSP00000284165.6:n.2465_2466delinsGT
ENST00000341653.6:c.171+18370_171+18371delinsGT	ENSP00000342482.2:n.171+18370_171+18371delinsGT
ENST00000358402.8:c.1138_1139delinsGT	ENSP00000351175.4:n.1138_1139delinsGT
ENST00000394606.6:c.1394_1395delinsGT	ENSP00000378104.2:n.1394_1395delinsGT
ENST00000555932.5:c.1113_1114delinsGT	ENSP00000450763.1:n.1113_1114delinsGT
ENST00000618858.4:c.1410_1411delinsGT	ENSP00000480127.1:n.1410_1411delinsGT
NM_001271069.1:c.144+18370_144+18371delinsGT	NP_001257998.1:n.144+18370_144+18371delinsGT
NM_002382.4:c.1138_1139delinsGT	NP_002373.3:n.1138_1139delinsGT
NM_145112.2:c.1138_1139delinsGT	NP_660087.1:n.1138_1139delinsGT
NM_145113.2:c.1410_1411delinsGT	NP_660088.1:n.1410_1411delinsGT
NM_197957.3:c.171+18370_171+18371delinsGT	NP_932061.1:n.171+18370_171+18371delinsGT
NR_073137.1:n.1745_1746delinsGT
XR_429315.2:n.1908_1909delinsGT
NM_001320415.1:c.1138_1139delinsGT	NP_001307344.1:n.1138_1139delinsGT
XM_017021312.2:c.1138_1139delinsGT	XP_016876801.1:n.1138_1139delinsGT
XM_017021313.1:c.1138_1139delinsGT	XP_016876802.1:n.1138_1139delinsGT
XR_001750326.2:n.1966_1967delinsGT
XR_001750327.2:n.1885_1886delinsGT
XR_002957553.1:n.2399_2400delinsGT
XR_943450.3:n.1989_1990delinsGT
XR_943451.3:n.2005_2006delinsGT
XR_943452.3:n.1950_1951delinsGT
NM_001320415.2:c.1138_1139delinsGT	NP_001307344.1:n.1138_1139delinsGT
NM_002382.5:c.1138_1139delinsGT MANE Select	NP_002373.3:n.1138_1139delinsGT
NM_145112.3:c.1138_1139delinsGT	NP_660087.1:n.1138_1139delinsGT
NM_145113.3:c.1410_1411delinsGT	NP_660088.1:n.1410_1411delinsGT
NM_001271069.2:c.144+18370_144+18371delinsGT	NP_001257998.1:n.144+18370_144+18371delinsGT
NM_197957.4:c.171+18370_171+18371delinsGT	NP_932061.1:n.171+18370_171+18371delinsGT

HGVS	Amino-acid Change
ENST00000556979.6:c.2074_2075delinsGT	ENSP00000452378.1:n.2074_2075delinsGT
ENST00000358664.9:c.1138_1139delinsGT MANE Select	ENSP00000351490.4:n.1138_1139delinsGT
ENST00000651648.1:c.145-4969_145-4968delinsGT	ENSP00000498863.1:n.145-4969_145-4968delinsGT
ENST00000284165.10:c.2465_2466delinsGT	ENSP00000284165.6:n.2465_2466delinsGT
ENST00000341653.6:c.171+18370_171+18371delinsGT	ENSP00000342482.2:n.171+18370_171+18371delinsGT
ENST00000358402.8:c.1138_1139delinsGT	ENSP00000351175.4:n.1138_1139delinsGT
ENST00000394606.6:c.1394_1395delinsGT	ENSP00000378104.2:n.1394_1395delinsGT
ENST00000555932.5:c.1113_1114delinsGT	ENSP00000450763.1:n.1113_1114delinsGT
ENST00000618858.4:c.1410_1411delinsGT	ENSP00000480127.1:n.1410_1411delinsGT
NM_001271069.1:c.144+18370_144+18371delinsGT	NP_001257998.1:n.144+18370_144+18371delinsGT
NM_002382.4:c.1138_1139delinsGT	NP_002373.3:n.1138_1139delinsGT
NM_145112.2:c.1138_1139delinsGT	NP_660087.1:n.1138_1139delinsGT
NM_145113.2:c.1410_1411delinsGT	NP_660088.1:n.1410_1411delinsGT
NM_197957.3:c.171+18370_171+18371delinsGT	NP_932061.1:n.171+18370_171+18371delinsGT
NR_073137.1:n.1745_1746delinsGT
XR_429315.2:n.1908_1909delinsGT
NM_001320415.1:c.1138_1139delinsGT	NP_001307344.1:n.1138_1139delinsGT
XM_017021312.2:c.1138_1139delinsGT	XP_016876801.1:n.1138_1139delinsGT
XM_017021313.1:c.1138_1139delinsGT	XP_016876802.1:n.1138_1139delinsGT
XR_001750326.2:n.1966_1967delinsGT
XR_001750327.2:n.1885_1886delinsGT
XR_002957553.1:n.2399_2400delinsGT
XR_943450.3:n.1989_1990delinsGT
XR_943451.3:n.2005_2006delinsGT
XR_943452.3:n.1950_1951delinsGT
NM_001320415.2:c.1138_1139delinsGT	NP_001307344.1:n.1138_1139delinsGT
NM_002382.5:c.1138_1139delinsGT MANE Select	NP_002373.3:n.1138_1139delinsGT
NM_145112.3:c.1138_1139delinsGT	NP_660087.1:n.1138_1139delinsGT
NM_145113.3:c.1410_1411delinsGT	NP_660088.1:n.1410_1411delinsGT
NM_001271069.2:c.144+18370_144+18371delinsGT	NP_001257998.1:n.144+18370_144+18371delinsGT
NM_197957.4:c.171+18370_171+18371delinsGT	NP_932061.1:n.171+18370_171+18371delinsGT