Canonical Allele Identifier: CA16617005
Gene: NAXE HGNC NCBI

Linked Data

ClinVar Variation Id: 423748
ClinVar RCV Id: RCV000479500
dbSNP Id: rs1064796609

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156592622_156592632delinsATCCCTTTCCTTGGGG , CM000663.2:g.156592622_156592632delinsATCCCTTTCCTTGGGG GRCh38
NC_000001.10:g.156562414_156562424delinsATCCCTTTCCTTGGGG , CM000663.1:g.156562414_156562424delinsATCCCTTTCCTTGGGG GRCh37
NC_000001.9:g.154829038_154829048delinsATCCCTTTCCTTGGGG NCBI36
NG_052542.1:g.5857_5867delinsATCCCTTTCCTTGGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000368235.8:c.468_478delinsATCCCTTTCCTTGGGG MANE Select ENSP00000357218.3:p.Gln157SerfsTer20
ENST00000467374.2:n.578_588delinsATCCCTTTCCTTGGGG
ENST00000679369.1:c.357_367delinsATCCCTTTCCTTGGGG ENSP00000505883.1:p.Gln120SerfsTer20
ENST00000679649.1:n.507_517delinsATCCCTTTCCTTGGGG
ENST00000679702.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000505913.1:p.Gln157SerfsTer20
ENST00000679913.1:n.672_682delinsATCCCTTTCCTTGGGG
ENST00000680004.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000506275.1:p.Gln157SerfsTer20
ENST00000680087.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000505907.1:p.Gln157SerfsTer20
ENST00000680269.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000505899.1:p.Gln157SerfsTer20
ENST00000680529.1:n.652_662delinsATCCCTTTCCTTGGGG
ENST00000680661.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000505088.1:p.Gln157SerfsTer20
ENST00000681054.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000506192.1:p.Gln157SerfsTer20
ENST00000681523.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000505349.1:p.Gln157SerfsTer20
ENST00000681645.1:n.507_517delinsATCCCTTTCCTTGGGG
ENST00000681734.1:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000506177.1:p.Gln157SerfsTer20
ENST00000681825.1:n.272_282delinsATCCCTTTCCTTGGGG
ENST00000681922.1:n.507_517delinsATCCCTTTCCTTGGGG
ENST00000368233.3:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000357216.3:p.Gln157SerfsTer20
ENST00000368234.7:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000357217.3:p.Gln157SerfsTer?
ENST00000368235.7:c.468_478delinsATCCCTTTCCTTGGGG ENSP00000357218.3:p.Gln157SerfsTer20
ENST00000467374.1:n.377_387delinsATCCCTTTCCTTGGGG
NM_144772.2:c.468_478delinsATCCCTTTCCTTGGGG NP_658985.2:p.Gln157SerfsTer20
XM_017000319.2:c.468_478delinsATCCCTTTCCTTGGGG XP_016855808.1:p.Gln157SerfsTer20
NM_144772.3:c.468_478delinsATCCCTTTCCTTGGGG MANE Select NP_658985.2:p.Gln157SerfsTer20