Canonical Allele Identifier: CA1008098228

Gene: NAXE

Linked Data

• dbSNP Id: rs1677363602
• gnomAD v3: 1-156592623-CAG-C
• gnomAD v4: 1-156592623-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592624_156592625del , CM000663.2:g.156592624_156592625del	GRCh38
NC_000001.10:g.156562416_156562417del , CM000663.1:g.156562416_156562417del	GRCh37
NC_000001.9:g.154829040_154829041del	NCBI36
NG_052542.1:g.5859_5860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.470_471del MANE Select	ENSP00000357218.3:p.Gln157LeufsTer20
ENST00000467374.2:n.580_581del
ENST00000679369.1:c.359_360del	ENSP00000505883.1:p.Gln120LeufsTer20
ENST00000679649.1:n.509_510del
ENST00000679702.1:c.470_471del	ENSP00000505913.1:p.Gln157LeufsTer20
ENST00000679913.1:n.674_675del
ENST00000680004.1:c.470_471del	ENSP00000506275.1:p.Gln157LeufsTer20
ENST00000680087.1:c.470_471del	ENSP00000505907.1:p.Gln157LeufsTer20
ENST00000680269.1:c.470_471del	ENSP00000505899.1:p.Gln157LeufsTer20
ENST00000680529.1:n.654_655del
ENST00000680661.1:c.470_471del	ENSP00000505088.1:p.Gln157LeufsTer20
ENST00000681054.1:c.470_471del	ENSP00000506192.1:p.Gln157LeufsTer20
ENST00000681523.1:c.470_471del	ENSP00000505349.1:p.Gln157LeufsTer20
ENST00000681645.1:n.509_510del
ENST00000681734.1:c.470_471del	ENSP00000506177.1:p.Gln157LeufsTer20
ENST00000681825.1:n.274_275del
ENST00000681922.1:n.509_510del
ENST00000368233.3:c.470_471del	ENSP00000357216.3:p.Gln157LeufsTer20
ENST00000368234.7:c.470_471del	ENSP00000357217.3:p.Gln157LeufsTer29
ENST00000368235.7:c.470_471del	ENSP00000357218.3:p.Gln157LeufsTer20
ENST00000467374.1:n.379_380del
NM_144772.2:c.470_471del	NP_658985.2:p.Gln157LeufsTer20
XM_017000319.2:c.470_471del	XP_016855808.1:p.Gln157LeufsTer20
NM_144772.3:c.470_471del MANE Select	NP_658985.2:p.Gln157LeufsTer20