Canonical Allele Identifier: CA1162747

Gene: NAXE

Linked Data

• dbSNP Id: rs769761673
• ExAC: 1:156562267 TGTGA / T
• gnomAD v2: 1-156562267-TGTGA-T
• gnomAD v3: 1-156592475-TGTGA-T
• gnomAD v4: 1-156592475-TGTGA-T
• MyVariant Identifiers: chr1:g.156562268_156562271del (hg19) ; chr1:g.156592476_156592479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156592478_156592481del , CM000663.2:g.156592478_156592481del	GRCh38
NC_000001.10:g.156562270_156562273del , CM000663.1:g.156562270_156562273del	GRCh37
NC_000001.9:g.154828894_154828897del	NCBI36
NG_052542.1:g.5713_5716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.402+3_402+6del MANE Select	ENSP00000357218.3:n.402+3_402+6del
ENST00000467374.2:n.434_437del
ENST00000679369.1:c.292-79_292-76del	ENSP00000505883.1:n.292-79_292-76del
ENST00000679649.1:n.441+3_441+6del
ENST00000679702.1:c.402+3_402+6del	ENSP00000505913.1:n.402+3_402+6del
ENST00000679913.1:n.606+3_606+6del
ENST00000680004.1:c.402+3_402+6del	ENSP00000506275.1:n.402+3_402+6del
ENST00000680087.1:c.402+3_402+6del	ENSP00000505907.1:n.402+3_402+6del
ENST00000680269.1:c.402+3_402+6del	ENSP00000505899.1:n.402+3_402+6del
ENST00000680529.1:n.586+3_586+6del
ENST00000680661.1:c.402+3_402+6del	ENSP00000505088.1:n.402+3_402+6del
ENST00000681054.1:c.402+3_402+6del	ENSP00000506192.1:n.402+3_402+6del
ENST00000681523.1:c.402+3_402+6del	ENSP00000505349.1:n.402+3_402+6del
ENST00000681645.1:n.441+3_441+6del
ENST00000681734.1:c.402+3_402+6del	ENSP00000506177.1:n.402+3_402+6del
ENST00000681825.1:n.206+3_206+6del
ENST00000681922.1:n.441+3_441+6del
ENST00000368233.3:c.402+3_402+6del	ENSP00000357216.3:n.402+3_402+6del
ENST00000368234.7:c.402+3_402+6del	ENSP00000357217.3:n.402+3_402+6del
ENST00000368235.7:c.402+3_402+6del	ENSP00000357218.3:n.402+3_402+6del
ENST00000467374.1:n.311+3_311+6del
NM_144772.2:c.402+3_402+6del	NP_658985.2:n.402+3_402+6del
XM_017000319.2:c.402+3_402+6del	XP_016855808.1:n.402+3_402+6del
NM_144772.3:c.402+3_402+6del MANE Select	NP_658985.2:n.402+3_402+6del