Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075513_65075514delinsCT , CM000676.2:g.65075513_65075514delinsCT	GRCh38
NC_000014.8:g.65542231_65542232delinsCT , CM000676.1:g.65542231_65542232delinsCT	GRCh37
NC_000014.7:g.64611984_64611985delinsCT	NCBI36
NG_029830.1:g.31996_31997delinsAG , LRG_530:g.31996_31997delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.1898_1899delinsAG	ENSP00000452378.1:n.1898_1899delinsAG
ENST00000358664.9:c.962_963delinsAG MANE Select	ENSP00000351490.4:n.962_963delinsAG
ENST00000651648.1:c.145-5145_145-5144delinsAG	ENSP00000498863.1:n.145-5145_145-5144delinsAG
ENST00000284165.10:c.2289_2290delinsAG	ENSP00000284165.6:n.2289_2290delinsAG
ENST00000341653.6:c.171+18194_171+18195delinsAG	ENSP00000342482.2:n.171+18194_171+18195delinsAG
ENST00000358402.8:c.962_963delinsAG	ENSP00000351175.4:n.962_963delinsAG
ENST00000394606.6:c.1218_1219delinsAG	ENSP00000378104.2:n.1218_1219delinsAG
ENST00000555932.5:c.937_938delinsAG	ENSP00000450763.1:n.937_938delinsAG
ENST00000618858.4:c.1234_1235delinsAG	ENSP00000480127.1:n.1234_1235delinsAG
NM_001271069.1:c.144+18194_144+18195delinsAG	NP_001257998.1:n.144+18194_144+18195delinsAG
NM_002382.4:c.962_963delinsAG	NP_002373.3:n.962_963delinsAG
NM_145112.2:c.962_963delinsAG	NP_660087.1:n.962_963delinsAG
NM_145113.2:c.1234_1235delinsAG	NP_660088.1:n.1234_1235delinsAG
NM_197957.3:c.171+18194_171+18195delinsAG	NP_932061.1:n.171+18194_171+18195delinsAG
NR_073137.1:n.1569_1570delinsAG
XR_429315.2:n.1732_1733delinsAG
NM_001320415.1:c.962_963delinsAG	NP_001307344.1:n.962_963delinsAG
XM_017021312.2:c.962_963delinsAG	XP_016876801.1:n.962_963delinsAG
XM_017021313.1:c.962_963delinsAG	XP_016876802.1:n.962_963delinsAG
XR_001750326.2:n.1790_1791delinsAG
XR_001750327.2:n.1709_1710delinsAG
XR_002957553.1:n.2223_2224delinsAG
XR_943450.3:n.1813_1814delinsAG
XR_943451.3:n.1829_1830delinsAG
XR_943452.3:n.1774_1775delinsAG
NM_001320415.2:c.962_963delinsAG	NP_001307344.1:n.962_963delinsAG
NM_002382.5:c.962_963delinsAG MANE Select	NP_002373.3:n.962_963delinsAG
NM_145112.3:c.962_963delinsAG	NP_660087.1:n.962_963delinsAG
NM_145113.3:c.1234_1235delinsAG	NP_660088.1:n.1234_1235delinsAG
NM_001271069.2:c.144+18194_144+18195delinsAG	NP_001257998.1:n.144+18194_144+18195delinsAG
NM_197957.4:c.171+18194_171+18195delinsAG	NP_932061.1:n.171+18194_171+18195delinsAG

HGVS	Amino-acid Change
ENST00000556979.6:c.1898_1899delinsAG	ENSP00000452378.1:n.1898_1899delinsAG
ENST00000358664.9:c.962_963delinsAG MANE Select	ENSP00000351490.4:n.962_963delinsAG
ENST00000651648.1:c.145-5145_145-5144delinsAG	ENSP00000498863.1:n.145-5145_145-5144delinsAG
ENST00000284165.10:c.2289_2290delinsAG	ENSP00000284165.6:n.2289_2290delinsAG
ENST00000341653.6:c.171+18194_171+18195delinsAG	ENSP00000342482.2:n.171+18194_171+18195delinsAG
ENST00000358402.8:c.962_963delinsAG	ENSP00000351175.4:n.962_963delinsAG
ENST00000394606.6:c.1218_1219delinsAG	ENSP00000378104.2:n.1218_1219delinsAG
ENST00000555932.5:c.937_938delinsAG	ENSP00000450763.1:n.937_938delinsAG
ENST00000618858.4:c.1234_1235delinsAG	ENSP00000480127.1:n.1234_1235delinsAG
NM_001271069.1:c.144+18194_144+18195delinsAG	NP_001257998.1:n.144+18194_144+18195delinsAG
NM_002382.4:c.962_963delinsAG	NP_002373.3:n.962_963delinsAG
NM_145112.2:c.962_963delinsAG	NP_660087.1:n.962_963delinsAG
NM_145113.2:c.1234_1235delinsAG	NP_660088.1:n.1234_1235delinsAG
NM_197957.3:c.171+18194_171+18195delinsAG	NP_932061.1:n.171+18194_171+18195delinsAG
NR_073137.1:n.1569_1570delinsAG
XR_429315.2:n.1732_1733delinsAG
NM_001320415.1:c.962_963delinsAG	NP_001307344.1:n.962_963delinsAG
XM_017021312.2:c.962_963delinsAG	XP_016876801.1:n.962_963delinsAG
XM_017021313.1:c.962_963delinsAG	XP_016876802.1:n.962_963delinsAG
XR_001750326.2:n.1790_1791delinsAG
XR_001750327.2:n.1709_1710delinsAG
XR_002957553.1:n.2223_2224delinsAG
XR_943450.3:n.1813_1814delinsAG
XR_943451.3:n.1829_1830delinsAG
XR_943452.3:n.1774_1775delinsAG
NM_001320415.2:c.962_963delinsAG	NP_001307344.1:n.962_963delinsAG
NM_002382.5:c.962_963delinsAG MANE Select	NP_002373.3:n.962_963delinsAG
NM_145112.3:c.962_963delinsAG	NP_660087.1:n.962_963delinsAG
NM_145113.3:c.1234_1235delinsAG	NP_660088.1:n.1234_1235delinsAG
NM_001271069.2:c.144+18194_144+18195delinsAG	NP_001257998.1:n.144+18194_144+18195delinsAG
NM_197957.4:c.171+18194_171+18195delinsAG	NP_932061.1:n.171+18194_171+18195delinsAG