Canonical Allele Identifier: CA2648419723

Gene: NAXE

Linked Data

• gnomAD v4: 1-156592926-TTGCCCTAGCATGCAGTAAACACATGATCTACCCCTCAGGGGCCGGAGTGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592934_156592984del , CM000663.2:g.156592934_156592984del	GRCh38
NC_000001.10:g.156562726_156562776del , CM000663.1:g.156562726_156562776del	GRCh37
NC_000001.9:g.154829350_154829400del	NCBI36
NG_052542.1:g.6169_6219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.516+264_516+314del MANE Select	ENSP00000357218.3:n.516+264_516+314del
ENST00000467374.2:n.890_940del
ENST00000679369.1:c.405+264_405+314del	ENSP00000505883.1:n.405+264_405+314del
ENST00000679649.1:n.555+264_555+314del
ENST00000679702.1:c.516+264_516+314del	ENSP00000505913.1:n.516+264_516+314del
ENST00000679913.1:n.720+264_720+314del
ENST00000680004.1:c.516+264_516+314del	ENSP00000506275.1:n.516+264_516+314del
ENST00000680087.1:c.516+264_516+314del	ENSP00000505907.1:n.516+264_516+314del
ENST00000680269.1:c.516+264_516+314del	ENSP00000505899.1:n.516+264_516+314del
ENST00000680529.1:n.700+264_700+314del
ENST00000680661.1:c.516+264_516+314del	ENSP00000505088.1:n.516+264_516+314del
ENST00000681054.1:c.516+264_516+314del	ENSP00000506192.1:n.516+264_516+314del
ENST00000681523.1:c.516+264_516+314del	ENSP00000505349.1:n.516+264_516+314del
ENST00000681645.1:n.555+264_555+314del
ENST00000681734.1:c.516+264_516+314del	ENSP00000506177.1:n.516+264_516+314del
ENST00000681825.1:n.584_634del
ENST00000681922.1:n.819_869del
ENST00000368233.3:c.516+264_516+314del	ENSP00000357216.3:n.516+264_516+314del
ENST00000368234.7:c.516+264_516+314del	ENSP00000357217.3:n.516+264_516+314del
ENST00000368235.7:c.516+264_516+314del	ENSP00000357218.3:n.516+264_516+314del
ENST00000467374.1:n.689_739del
NM_144772.2:c.516+264_516+314del	NP_658985.2:n.516+264_516+314del
XM_017000319.2:c.516+264_516+314del	XP_016855808.1:n.516+264_516+314del
NM_144772.3:c.516+264_516+314del MANE Select	NP_658985.2:n.516+264_516+314del