Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075162_65075163delinsTA , CM000676.2:g.65075162_65075163delinsTA	GRCh38
NC_000014.8:g.65541880_65541881delinsTA , CM000676.1:g.65541880_65541881delinsTA	GRCh37
NC_000014.7:g.64611633_64611634delinsTA	NCBI36
NG_029830.1:g.32347_32348delinsTA , LRG_530:g.32347_32348delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.2249_2250delinsTA	ENSP00000452378.1:n.2249_2250delinsTA
ENST00000358664.9:c.1313_1314delinsTA MANE Select	ENSP00000351490.4:n.1313_1314delinsTA
ENST00000651648.1:c.145-4794_145-4793delinsTA	ENSP00000498863.1:n.145-4794_145-4793delinsTA
ENST00000341653.6:c.171+18545_171+18546delinsTA	ENSP00000342482.2:n.171+18545_171+18546delinsTA
ENST00000358402.8:c.1313_1314delinsTA	ENSP00000351175.4:n.1313_1314delinsTA
ENST00000394606.6:c.1569_1570delinsTA	ENSP00000378104.2:n.1569_1570delinsTA
ENST00000555932.5:c.1288_1289delinsTA	ENSP00000450763.1:n.1288_1289delinsTA
ENST00000618858.4:c.1585_1586delinsTA	ENSP00000480127.1:n.1585_1586delinsTA
NM_001271069.1:c.144+18545_144+18546delinsTA	NP_001257998.1:n.144+18545_144+18546delinsTA
NM_002382.4:c.1313_1314delinsTA	NP_002373.3:n.1313_1314delinsTA
NM_145112.2:c.1313_1314delinsTA	NP_660087.1:n.1313_1314delinsTA
NM_145113.2:c.1585_1586delinsTA	NP_660088.1:n.1585_1586delinsTA
NM_197957.3:c.171+18545_171+18546delinsTA	NP_932061.1:n.171+18545_171+18546delinsTA
NR_073137.1:n.1920_1921delinsTA
XR_429315.2:n.2083_2084delinsTA
NM_001320415.1:c.1313_1314delinsTA	NP_001307344.1:n.1313_1314delinsTA
XM_017021312.2:c.1313_1314delinsTA	XP_016876801.1:n.1313_1314delinsTA
XM_017021313.1:c.1313_1314delinsTA	XP_016876802.1:n.1313_1314delinsTA
XR_001750326.2:n.2141_2142delinsTA
XR_001750327.2:n.2060_2061delinsTA
XR_002957553.1:n.2574_2575delinsTA
XR_943450.3:n.2164_2165delinsTA
XR_943451.3:n.2180_2181delinsTA
XR_943452.3:n.2125_2126delinsTA
NM_001320415.2:c.1313_1314delinsTA	NP_001307344.1:n.1313_1314delinsTA
NM_002382.5:c.1313_1314delinsTA MANE Select	NP_002373.3:n.1313_1314delinsTA
NM_145112.3:c.1313_1314delinsTA	NP_660087.1:n.1313_1314delinsTA
NM_145113.3:c.1585_1586delinsTA	NP_660088.1:n.1585_1586delinsTA
NM_001271069.2:c.144+18545_144+18546delinsTA	NP_001257998.1:n.144+18545_144+18546delinsTA
NM_197957.4:c.171+18545_171+18546delinsTA	NP_932061.1:n.171+18545_171+18546delinsTA

HGVS	Amino-acid Change
ENST00000556979.6:c.2249_2250delinsTA	ENSP00000452378.1:n.2249_2250delinsTA
ENST00000358664.9:c.1313_1314delinsTA MANE Select	ENSP00000351490.4:n.1313_1314delinsTA
ENST00000651648.1:c.145-4794_145-4793delinsTA	ENSP00000498863.1:n.145-4794_145-4793delinsTA
ENST00000341653.6:c.171+18545_171+18546delinsTA	ENSP00000342482.2:n.171+18545_171+18546delinsTA
ENST00000358402.8:c.1313_1314delinsTA	ENSP00000351175.4:n.1313_1314delinsTA
ENST00000394606.6:c.1569_1570delinsTA	ENSP00000378104.2:n.1569_1570delinsTA
ENST00000555932.5:c.1288_1289delinsTA	ENSP00000450763.1:n.1288_1289delinsTA
ENST00000618858.4:c.1585_1586delinsTA	ENSP00000480127.1:n.1585_1586delinsTA
NM_001271069.1:c.144+18545_144+18546delinsTA	NP_001257998.1:n.144+18545_144+18546delinsTA
NM_002382.4:c.1313_1314delinsTA	NP_002373.3:n.1313_1314delinsTA
NM_145112.2:c.1313_1314delinsTA	NP_660087.1:n.1313_1314delinsTA
NM_145113.2:c.1585_1586delinsTA	NP_660088.1:n.1585_1586delinsTA
NM_197957.3:c.171+18545_171+18546delinsTA	NP_932061.1:n.171+18545_171+18546delinsTA
NR_073137.1:n.1920_1921delinsTA
XR_429315.2:n.2083_2084delinsTA
NM_001320415.1:c.1313_1314delinsTA	NP_001307344.1:n.1313_1314delinsTA
XM_017021312.2:c.1313_1314delinsTA	XP_016876801.1:n.1313_1314delinsTA
XM_017021313.1:c.1313_1314delinsTA	XP_016876802.1:n.1313_1314delinsTA
XR_001750326.2:n.2141_2142delinsTA
XR_001750327.2:n.2060_2061delinsTA
XR_002957553.1:n.2574_2575delinsTA
XR_943450.3:n.2164_2165delinsTA
XR_943451.3:n.2180_2181delinsTA
XR_943452.3:n.2125_2126delinsTA
NM_001320415.2:c.1313_1314delinsTA	NP_001307344.1:n.1313_1314delinsTA
NM_002382.5:c.1313_1314delinsTA MANE Select	NP_002373.3:n.1313_1314delinsTA
NM_145112.3:c.1313_1314delinsTA	NP_660087.1:n.1313_1314delinsTA
NM_145113.3:c.1585_1586delinsTA	NP_660088.1:n.1585_1586delinsTA
NM_001271069.2:c.144+18545_144+18546delinsTA	NP_001257998.1:n.144+18545_144+18546delinsTA
NM_197957.4:c.171+18545_171+18546delinsTA	NP_932061.1:n.171+18545_171+18546delinsTA