Canonical Allele Identifier: CA526672147

Gene: NAXE

Linked Data

• dbSNP Id: rs1359880468
• gnomAD v2: 1-156562410-TGACCCAGTGTCAGAAAATG-T
• MyVariant Identifiers: chr1:g.156562411_156562429del (hg19) ; chr1:g.156592619_156592637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592622_156592640del , CM000663.2:g.156592622_156592640del	GRCh38
NC_000001.10:g.156562414_156562432del , CM000663.1:g.156562414_156562432del	GRCh37
NC_000001.9:g.154829038_154829056del	NCBI36
NG_052542.1:g.5857_5875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368235.8:c.468_486del MANE Select	ENSP00000357218.3:p.Gln157SerfsTer12
ENST00000467374.2:n.578_596del
ENST00000679369.1:c.357_375del	ENSP00000505883.1:p.Gln120SerfsTer12
ENST00000679649.1:n.507_525del
ENST00000679702.1:c.468_486del	ENSP00000505913.1:p.Gln157SerfsTer12
ENST00000679913.1:n.672_690del
ENST00000680004.1:c.468_486del	ENSP00000506275.1:p.Gln157SerfsTer12
ENST00000680087.1:c.468_486del	ENSP00000505907.1:p.Gln157SerfsTer12
ENST00000680269.1:c.468_486del	ENSP00000505899.1:p.Gln157SerfsTer12
ENST00000680529.1:n.652_670del
ENST00000680661.1:c.468_486del	ENSP00000505088.1:p.Gln157SerfsTer12
ENST00000681054.1:c.468_486del	ENSP00000506192.1:p.Gln157SerfsTer12
ENST00000681523.1:c.468_486del	ENSP00000505349.1:p.Gln157SerfsTer12
ENST00000681645.1:n.507_525del
ENST00000681734.1:c.468_486del	ENSP00000506177.1:p.Gln157SerfsTer12
ENST00000681825.1:n.272_290del
ENST00000681922.1:n.507_525del
ENST00000368233.3:c.468_486del	ENSP00000357216.3:p.Gln157SerfsTer12
ENST00000368234.7:c.468_486del	ENSP00000357217.3:p.Gln157SerfsTer?
ENST00000368235.7:c.468_486del	ENSP00000357218.3:p.Gln157SerfsTer12
ENST00000467374.1:n.377_395del
NM_144772.2:c.468_486del	NP_658985.2:p.Gln157SerfsTer12
XM_017000319.2:c.468_486del	XP_016855808.1:p.Gln157SerfsTer12
NM_144772.3:c.468_486del MANE Select	NP_658985.2:p.Gln157SerfsTer12