Canonical Allele Identifier: CA2573053576
Community Standard Title: NC_000011.10:g.78476711_78486359del
Gene: NARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78476711_78486359del , CM000673.2:g.78476711_78486359del GRCh38
NC_000011.9:g.78187757_78197405del , CM000673.1:g.78187757_78197405del GRCh37
NC_000011.8:g.77865405_77875053del NCBI36
NG_042046.1:g.93506_103154del

Transcript Alleles

HGVS Amino-acid Change
NM_001243251.1:c.141+6704_278+1727del
NM_001243251.2:c.141+6704_278+1727del
NM_024678.5:c.822+6704_959+1727del
NM_024678.6:c.822+6704_959+1727del
ENST00000281038.10:c.822+6704_959+1727del
ENST00000281038.9:c.822+6704_959+1727del
ENST00000525345.5:c.313-7676_449+1727del
ENST00000525345.6:n.313-7676_449+1727del
ENST00000528850.5:c.141+6704_278+1727del
ENST00000529771.2:c.141+6704_278+1727del
ENST00000529880.1:c.595-20346_595-10698del ENSP00000432240.1:n.595-20346_595-10698del
ENST00000695114.1:n.3483+6704_3620+1727del
ENST00000695115.1:c.141+6704_278+1727del
ENST00000695116.1:c.141+6704_142-7398del ENSP00000511706.1:n.141+6704_142-7398del
ENST00000695341.1:c.*493-7676_*624+1727del
ENST00000695342.1:c.141+6704_278+1727del
ENST00000695343.1:c.141+6704_278+1727del
ENST00000695344.1:c.741+6704_878+1727del
ENST00000695345.1:c.141+6704_278+1727del
ENST00000695346.1:c.*239+6704_*376+1727del
ENST00000695347.1:c.*294+6704_*431+1727del
ENST00000695348.1:c.141+6704_278+1727del
ENST00000695349.1:c.822+6704_959+1727del
ENST00000695350.1:c.609-7676_*130+1727del
ENST00000695351.1:c.822+6704_823-10698del ENSP00000511826.1:n.822+6704_823-10698del
ENST00000695352.1:c.-30-7676_107+1727del
ENST00000695353.1:c.-105-20346_-105-10698del ENSP00000511828.1:n.-105-20346_-105-10698del
ENST00000695354.1:c.822+6704_959+1727del
ENST00000695355.1:c.822+6704_959+1727del
ENST00000695356.1:c.*803+6704_*935+1727del
ENST00000695357.1:c.822+6704_959+1727del
ENST00000695358.1:c.822+6704_959+1727del
ENST00000695359.1:c.*479+6704_*616+1727del
ENST00000695360.1:c.822+6704_959+1727del
ENST00000695361.1:c.*88+6704_*89-7398del ENSP00000511836.1:n.*88+6704_*89-7398del
ENST00000695362.1:c.*143-7676_*279+1727del
ENST00000695364.1:n.1160+6704_1560del
ENST00000695365.1:n.1112+6704_3085del
ENST00000695366.1:c.822+6704_959+1727del
XM_011545253.1:c.822+6704_959+1727del
XM_011545253.2:c.822+6704_959+1727del
XM_017018303.1:c.141+6704_278+1727del
XM_017018304.2:c.141+6704_278+1727del
XR_001747963.2:n.1176+6704_1313+1727del
XR_001747964.2:n.1176+6704_1308+1727del
XR_001747965.2:n.1176+6704_1308+1727del
XR_001747966.2:n.1176+6704_1275+1874del
XR_001748314.1:n.3035+1834_3036-10577del
XR_950050.1:n.1191+6704_1328+1727del
XR_950051.1:n.1191+6704_1290+1874del
XR_950344.1:n.199+1834_200-10577del
XR_950345.1:n.151+3415_152-10577del