Canonical Allele Identifier: CA2573146125
Gene: NAV2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20103660del , CM000673.2:g.20103660del GRCh38
NC_000011.9:g.20125206del , CM000673.1:g.20125206del GRCh37
NC_000011.8:g.20081782del NCBI36
NG_030347.1:g.757936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349880.9:c.6580del MANE Select ENSP00000309577.6:p.Ile2194Ter
ENST00000396085.6:c.6589del ENSP00000379394.1:p.Ile2197Ter
ENST00000349880.8:c.6580del ENSP00000309577.6:p.Ile2194Ter
ENST00000360655.8:c.6388del ENSP00000353871.4:p.Ile2130Ter
ENST00000396085.5:c.6589del ENSP00000379394.1:p.Ile2197Ter
ENST00000396087.7:c.6757del ENSP00000379396.3:p.Ile2253Ter
ENST00000527559.6:c.6760del ENSP00000435395.3:p.Ile2254Ter
ENST00000533917.5:c.3772del ENSP00000437316.1:p.Ile1258Ter
ENST00000540292.5:c.6592del ENSP00000443489.2:p.Ile2198Ter
NM_001111018.1:c.6388del NP_001104488.1:p.Ile2130Ter
NM_001111019.2:c.3772del NP_001104489.1:p.Ile1258Ter
NM_001244963.1:c.6757del NP_001231892.1:p.Ile2253Ter
NM_145117.4:c.6580del NP_660093.2:p.Ile2194Ter
NM_182964.5:c.6589del NP_892009.3:p.Ile2197Ter
XM_005253214.3:c.3736del XP_005253271.1:p.Ile1246Ter
XM_006718364.2:c.6688del XP_006718427.1:p.Ile2230Ter
XM_006718365.2:c.6658del XP_006718428.1:p.Ile2220Ter
XM_006718366.2:c.6541del XP_006718429.1:p.Ile2181Ter
XM_006718367.2:c.3946del XP_006718430.1:p.Ile1316Ter
XM_006718368.2:c.3772del XP_006718431.1:p.Ile1258Ter
XM_006718369.1:c.3685del XP_006718432.1:p.Ile1229Ter
XM_011520444.1:c.6748del XP_011518746.1:p.Ile2250Ter
XM_011520445.1:c.6691del XP_011518747.1:p.Ile2231Ter
XM_011520446.1:c.6649del XP_011518748.1:p.Ile2217Ter
XM_011520447.1:c.6646del XP_011518749.1:p.Ile2216Ter
XM_011520448.1:c.6628del XP_011518750.1:p.Ile2210Ter
XM_011520449.1:c.6583del XP_011518751.1:p.Ile2195Ter
XM_011520450.1:c.6547del XP_011518752.1:p.Ile2183Ter
XM_011520451.1:c.6478del XP_011518753.1:p.Ile2160Ter
XM_011520452.1:c.6388del XP_011518754.1:p.Ile2130Ter
XM_011520453.1:c.3685del XP_011518755.1:p.Ile1229Ter
XM_011520454.1:c.3475del XP_011518756.1:p.Ile1159Ter
XM_005253214.4:c.3736del XP_005253271.1:p.Ile1246Ter
XM_006718364.4:c.6688del XP_006718427.1:p.Ile2230Ter
XM_006718365.4:c.6658del XP_006718428.1:p.Ile2220Ter
XM_006718366.4:c.6541del XP_006718429.1:p.Ile2181Ter
XM_006718367.3:c.3946del XP_006718430.1:p.Ile1316Ter
XM_006718368.3:c.3772del XP_006718431.1:p.Ile1258Ter
XM_006718369.2:c.3685del XP_006718432.1:p.Ile1229Ter
XM_011520444.3:c.6748del XP_011518746.1:p.Ile2250Ter
XM_011520445.3:c.6691del XP_011518747.1:p.Ile2231Ter
XM_011520446.3:c.6649del XP_011518748.1:p.Ile2217Ter
XM_011520447.3:c.6646del XP_011518749.1:p.Ile2216Ter
XM_011520448.3:c.6628del XP_011518750.1:p.Ile2210Ter
XM_011520449.3:c.6583del XP_011518751.1:p.Ile2195Ter
XM_011520450.3:c.6547del XP_011518752.1:p.Ile2183Ter
XM_011520451.2:c.6478del XP_011518753.1:p.Ile2160Ter
XM_011520452.2:c.6388del XP_011518754.1:p.Ile2130Ter
XM_011520453.2:c.3685del XP_011518755.1:p.Ile1229Ter
XM_011520454.2:c.3475del XP_011518756.1:p.Ile1159Ter
XM_017018520.2:c.6565del XP_016874009.1:p.Ile2189Ter
XM_017018521.2:c.6538del XP_016874010.1:p.Ile2180Ter
XM_017018522.1:c.6496del XP_016874011.1:p.Ile2166Ter
XM_017018523.1:c.6322del XP_016874012.1:p.Ile2108Ter
XM_017018524.2:c.6322del XP_016874013.1:p.Ile2108Ter
XM_017018525.1:c.5722del XP_016874014.1:p.Ile1908Ter
XM_017018526.1:c.4039del XP_016874015.1:p.Ile1347Ter
XM_024448758.1:c.6565del XP_024304526.1:p.Ile2189Ter
NM_182964.6:c.6589del NP_892009.3:p.Ile2197Ter
NM_001111019.3:c.3772del NP_001104489.1:p.Ile1258Ter
NM_001244963.2:c.6757del NP_001231892.1:p.Ile2253Ter
NM_145117.5:c.6580del MANE Select NP_660093.2:p.Ile2194Ter
NM_001111018.2:c.6388del NP_001104488.1:p.Ile2130Ter