Canonical Allele Identifier: CA1008098312

Gene: NAXE

Linked Data

• dbSNP Id: rs1677369136
• gnomAD v3: 1-156592716-C-CTG
• gnomAD v4: 1-156592716-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592719_156592720dup , CM000663.2:g.156592719_156592720dup	GRCh38
NC_000001.10:g.156562511_156562512dup , CM000663.1:g.156562511_156562512dup	GRCh37
NC_000001.9:g.154829135_154829136dup	NCBI36
NG_052542.1:g.5954_5955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.516+49_516+50dup MANE Select	ENSP00000357218.3:n.516+49_516+50dup
ENST00000467374.2:n.675_676dup
ENST00000679369.1:c.405+49_405+50dup	ENSP00000505883.1:n.405+49_405+50dup
ENST00000679649.1:n.555+49_555+50dup
ENST00000679702.1:c.516+49_516+50dup	ENSP00000505913.1:n.516+49_516+50dup
ENST00000679913.1:n.720+49_720+50dup
ENST00000680004.1:c.516+49_516+50dup	ENSP00000506275.1:n.516+49_516+50dup
ENST00000680087.1:c.516+49_516+50dup	ENSP00000505907.1:n.516+49_516+50dup
ENST00000680269.1:c.516+49_516+50dup	ENSP00000505899.1:n.516+49_516+50dup
ENST00000680529.1:n.700+49_700+50dup
ENST00000680661.1:c.516+49_516+50dup	ENSP00000505088.1:n.516+49_516+50dup
ENST00000681054.1:c.516+49_516+50dup	ENSP00000506192.1:n.516+49_516+50dup
ENST00000681523.1:c.516+49_516+50dup	ENSP00000505349.1:n.516+49_516+50dup
ENST00000681645.1:n.555+49_555+50dup
ENST00000681734.1:c.516+49_516+50dup	ENSP00000506177.1:n.516+49_516+50dup
ENST00000681825.1:n.369_370dup
ENST00000681922.1:n.604_605dup
ENST00000368233.3:c.516+49_516+50dup	ENSP00000357216.3:n.516+49_516+50dup
ENST00000368234.7:c.516+49_516+50dup	ENSP00000357217.3:n.516+49_516+50dup
ENST00000368235.7:c.516+49_516+50dup	ENSP00000357218.3:n.516+49_516+50dup
ENST00000467374.1:n.474_475dup
NM_144772.2:c.516+49_516+50dup	NP_658985.2:n.516+49_516+50dup
XM_017000319.2:c.516+49_516+50dup	XP_016855808.1:n.516+49_516+50dup
NM_144772.3:c.516+49_516+50dup MANE Select	NP_658985.2:n.516+49_516+50dup