Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075425_65075426insCG , CM000676.2:g.65075425_65075426insCG	GRCh38
NC_000014.8:g.65542143_65542144insCG , CM000676.1:g.65542143_65542144insCG	GRCh37
NC_000014.7:g.64611896_64611897insCG	NCBI36
NG_029830.1:g.32085_32086insGC , LRG_530:g.32085_32086insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.1987_1988insGC	ENSP00000452378.1:n.1987_1988insGC
ENST00000358664.9:c.1051_1052insGC MANE Select	ENSP00000351490.4:n.1051_1052insGC
ENST00000651648.1:c.145-5056_145-5055insGC	ENSP00000498863.1:n.145-5056_145-5055insGC
ENST00000284165.10:c.2378_2379insGC	ENSP00000284165.6:n.2378_2379insGC
ENST00000341653.6:c.171+18283_171+18284insGC	ENSP00000342482.2:n.171+18283_171+18284insGC
ENST00000358402.8:c.1051_1052insGC	ENSP00000351175.4:n.1051_1052insGC
ENST00000394606.6:c.1307_1308insGC	ENSP00000378104.2:n.1307_1308insGC
ENST00000555932.5:c.1026_1027insGC	ENSP00000450763.1:n.1026_1027insGC
ENST00000618858.4:c.1323_1324insGC	ENSP00000480127.1:n.1323_1324insGC
NM_001271069.1:c.144+18283_144+18284insGC	NP_001257998.1:n.144+18283_144+18284insGC
NM_002382.4:c.1051_1052insGC	NP_002373.3:n.1051_1052insGC
NM_145112.2:c.1051_1052insGC	NP_660087.1:n.1051_1052insGC
NM_145113.2:c.1323_1324insGC	NP_660088.1:n.1323_1324insGC
NM_197957.3:c.171+18283_171+18284insGC	NP_932061.1:n.171+18283_171+18284insGC
NR_073137.1:n.1658_1659insGC
XR_429315.2:n.1821_1822insGC
NM_001320415.1:c.1051_1052insGC	NP_001307344.1:n.1051_1052insGC
XM_017021312.2:c.1051_1052insGC	XP_016876801.1:n.1051_1052insGC
XM_017021313.1:c.1051_1052insGC	XP_016876802.1:n.1051_1052insGC
XR_001750326.2:n.1879_1880insGC
XR_001750327.2:n.1798_1799insGC
XR_002957553.1:n.2312_2313insGC
XR_943450.3:n.1902_1903insGC
XR_943451.3:n.1918_1919insGC
XR_943452.3:n.1863_1864insGC
NM_001320415.2:c.1051_1052insGC	NP_001307344.1:n.1051_1052insGC
NM_002382.5:c.1051_1052insGC MANE Select	NP_002373.3:n.1051_1052insGC
NM_145112.3:c.1051_1052insGC	NP_660087.1:n.1051_1052insGC
NM_145113.3:c.1323_1324insGC	NP_660088.1:n.1323_1324insGC
NM_001271069.2:c.144+18283_144+18284insGC	NP_001257998.1:n.144+18283_144+18284insGC
NM_197957.4:c.171+18283_171+18284insGC	NP_932061.1:n.171+18283_171+18284insGC

HGVS	Amino-acid Change
ENST00000556979.6:c.1987_1988insGC	ENSP00000452378.1:n.1987_1988insGC
ENST00000358664.9:c.1051_1052insGC MANE Select	ENSP00000351490.4:n.1051_1052insGC
ENST00000651648.1:c.145-5056_145-5055insGC	ENSP00000498863.1:n.145-5056_145-5055insGC
ENST00000284165.10:c.2378_2379insGC	ENSP00000284165.6:n.2378_2379insGC
ENST00000341653.6:c.171+18283_171+18284insGC	ENSP00000342482.2:n.171+18283_171+18284insGC
ENST00000358402.8:c.1051_1052insGC	ENSP00000351175.4:n.1051_1052insGC
ENST00000394606.6:c.1307_1308insGC	ENSP00000378104.2:n.1307_1308insGC
ENST00000555932.5:c.1026_1027insGC	ENSP00000450763.1:n.1026_1027insGC
ENST00000618858.4:c.1323_1324insGC	ENSP00000480127.1:n.1323_1324insGC
NM_001271069.1:c.144+18283_144+18284insGC	NP_001257998.1:n.144+18283_144+18284insGC
NM_002382.4:c.1051_1052insGC	NP_002373.3:n.1051_1052insGC
NM_145112.2:c.1051_1052insGC	NP_660087.1:n.1051_1052insGC
NM_145113.2:c.1323_1324insGC	NP_660088.1:n.1323_1324insGC
NM_197957.3:c.171+18283_171+18284insGC	NP_932061.1:n.171+18283_171+18284insGC
NR_073137.1:n.1658_1659insGC
XR_429315.2:n.1821_1822insGC
NM_001320415.1:c.1051_1052insGC	NP_001307344.1:n.1051_1052insGC
XM_017021312.2:c.1051_1052insGC	XP_016876801.1:n.1051_1052insGC
XM_017021313.1:c.1051_1052insGC	XP_016876802.1:n.1051_1052insGC
XR_001750326.2:n.1879_1880insGC
XR_001750327.2:n.1798_1799insGC
XR_002957553.1:n.2312_2313insGC
XR_943450.3:n.1902_1903insGC
XR_943451.3:n.1918_1919insGC
XR_943452.3:n.1863_1864insGC
NM_001320415.2:c.1051_1052insGC	NP_001307344.1:n.1051_1052insGC
NM_002382.5:c.1051_1052insGC MANE Select	NP_002373.3:n.1051_1052insGC
NM_145112.3:c.1051_1052insGC	NP_660087.1:n.1051_1052insGC
NM_145113.3:c.1323_1324insGC	NP_660088.1:n.1323_1324insGC
NM_001271069.2:c.144+18283_144+18284insGC	NP_001257998.1:n.144+18283_144+18284insGC
NM_197957.4:c.171+18283_171+18284insGC	NP_932061.1:n.171+18283_171+18284insGC