Canonical Allele Identifier: CA2573131181

Gene: NAXE

Linked Data

• ClinVar Variation Id: 1436705
• ClinVar RCV Id: RCV001931703
• dbSNP Id: rs2102492200

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156594059_156594060delinsTT , CM000663.2:g.156594059_156594060delinsTT	GRCh38
NC_000001.10:g.156563851_156563852delinsTT , CM000663.1:g.156563851_156563852delinsTT	GRCh37
NC_000001.9:g.154830475_154830476delinsTT	NCBI36
NG_052542.1:g.7294_7295delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.842_843delinsTT MANE Select	ENSP00000357218.3:p.Thr281Ile
ENST00000467374.2:n.2015_2016delinsTT
ENST00000679369.1:c.553+504_553+505delinsTT	ENSP00000505883.1:n.553+504_553+505delinsTT
ENST00000679649.1:n.881_882delinsTT
ENST00000679702.1:c.842_843delinsTT	ENSP00000505913.1:p.Thr281Ile
ENST00000679913.1:n.1046_1047delinsTT
ENST00000680004.1:c.842_843delinsTT	ENSP00000506275.1:p.Thr281Ile
ENST00000680087.1:c.664+504_664+505delinsTT	ENSP00000505907.1:n.664+504_664+505delinsTT
ENST00000680269.1:c.842_843delinsTT	ENSP00000505899.1:p.Thr281Ile
ENST00000680529.1:n.1026_1027delinsTT
ENST00000680661.1:c.664+504_664+505delinsTT	ENSP00000505088.1:n.664+504_664+505delinsTT
ENST00000681054.1:c.842_843delinsTT	ENSP00000506192.1:p.Thr281Ile
ENST00000681523.1:c.842_843delinsTT	ENSP00000505349.1:p.Thr281Ile
ENST00000681645.1:n.1207_1208delinsTT
ENST00000681734.1:c.779_780delinsTT	ENSP00000506177.1:p.Thr260Ile
ENST00000681825.1:n.1383_1384delinsTT
ENST00000681922.1:n.1618_1619delinsTT
ENST00000368234.7:c.*3_*4delinsTT	ENSP00000357217.3:n.*3_*4delinsTT
ENST00000368235.7:c.842_843delinsTT	ENSP00000357218.3:p.Thr281Ile
ENST00000488840.1:n.459_460delinsTT
NM_144772.2:c.842_843delinsTT	NP_658985.2:p.Thr281Ile
XM_017000319.2:c.681+487_681+488delinsTT	XP_016855808.1:n.681+487_681+488delinsTT
NM_144772.3:c.842_843delinsTT MANE Select	NP_658985.2:p.Thr281Ile