Canonical Allele Identifier: CA2648419384
Gene: NAXE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156592627_156592628del , CM000663.2:g.156592627_156592628del GRCh38
NC_000001.10:g.156562419_156562420del , CM000663.1:g.156562419_156562420del GRCh37
NC_000001.9:g.154829043_154829044del NCBI36
NG_052542.1:g.5862_5863del

Transcript Alleles

HGVS Amino-acid change
ENST00000368235.8:c.473_474del MANE Select ENSP00000357218.3:p.Cys158SerfsTer19
ENST00000467374.2:n.583_584del
ENST00000679369.1:c.362_363del ENSP00000505883.1:p.Cys121SerfsTer19
ENST00000679649.1:n.512_513del
ENST00000679702.1:c.473_474del ENSP00000505913.1:p.Cys158SerfsTer19
ENST00000679913.1:n.677_678del
ENST00000680004.1:c.473_474del ENSP00000506275.1:p.Cys158SerfsTer19
ENST00000680087.1:c.473_474del ENSP00000505907.1:p.Cys158SerfsTer19
ENST00000680269.1:c.473_474del ENSP00000505899.1:p.Cys158SerfsTer19
ENST00000680529.1:n.657_658del
ENST00000680661.1:c.473_474del ENSP00000505088.1:p.Cys158SerfsTer19
ENST00000681054.1:c.473_474del ENSP00000506192.1:p.Cys158SerfsTer19
ENST00000681523.1:c.473_474del ENSP00000505349.1:p.Cys158SerfsTer19
ENST00000681645.1:n.512_513del
ENST00000681734.1:c.473_474del ENSP00000506177.1:p.Cys158SerfsTer19
ENST00000681825.1:n.277_278del
ENST00000681922.1:n.512_513del
ENST00000368233.3:c.473_474del ENSP00000357216.3:p.Cys158SerfsTer19
ENST00000368234.7:c.473_474del ENSP00000357217.3:p.Cys158SerfsTer28
ENST00000368235.7:c.473_474del ENSP00000357218.3:p.Cys158SerfsTer19
ENST00000467374.1:n.382_383del
NM_144772.2:c.473_474del NP_658985.2:p.Cys158SerfsTer19
XM_017000319.2:c.473_474del XP_016855808.1:p.Cys158SerfsTer19
NM_144772.3:c.473_474del MANE Select NP_658985.2:p.Cys158SerfsTer19