Canonical Allele Identifier: CA2697559592

Gene: NF1

Linked Data

• ClinVar Variation Id: 2731666
• ClinVar RCV Id: RCV003497288

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357279del , CM000679.2:g.31357279del	GRCh38
NC_000017.10:g.29684297del , CM000679.1:g.29684297del	GRCh37
NC_000017.9:g.26708423del	NCBI36
NG_009018.1:g.267303del , LRG_214:g.267303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7862del	ENSP00000512431.1:p.Val2621GlufsTer17
ENST00000684826.1:c.2444del	ENSP00000509994.1:p.Val815GlufsTer17
ENST00000687027.1:c.2036del	ENSP00000508715.1:p.Val679GlufsTer17
ENST00000687863.1:n.4525del
ENST00000689464.1:c.930del
ENST00000691014.1:c.7910del	ENSP00000510595.1:p.Val2637GlufsTer17
ENST00000693617.1:c.2444del	ENSP00000510031.1:p.Val815GlufsTer17
ENST00000358273.9:c.7880del MANE Select	ENSP00000351015.4:p.Val2627GlufsTer17
ENST00000356175.7:c.7817del	ENSP00000348498.3:p.Val2606GlufsTer17
ENST00000358273.8:c.7880del	ENSP00000351015.4:p.Val2627GlufsTer17
ENST00000456735.6:c.6815del	ENSP00000389907.2:p.Val2272GlufsTer17
ENST00000471572.6:c.1263del
ENST00000577967.1:n.1476del
ENST00000579081.5:c.8016del	ENSP00000462408.1:n.8016del
ENST00000581790.5:c.865del
NM_000267.3:c.7817del , LRG_214t1:c.7817del	NP_000258.1:p.Val2606GlufsTer17
NM_001042492.2:c.7880del , LRG_214t2:c.7880del	NP_001035957.1:p.Val2627GlufsTer17
XM_005257983.1:c.7880del	XP_005258040.1:p.Val2627GlufsTer17
XM_005257984.1:c.7817del	XP_005258041.1:p.Val2606GlufsTer17
XM_006721922.1:c.7910del	XP_006721985.1:p.Val2637GlufsTer17
XM_006721923.2:c.7871del	XP_006721986.1:p.Val2624GlufsTer17
XM_006721924.1:c.7910del	XP_006721987.1:p.Val2637GlufsTer17
XM_006721925.1:c.7847del	XP_006721988.1:p.Val2616GlufsTer17
XM_006721926.2:c.7910del	XP_006721989.1:p.Val2637GlufsTer17
XM_006721927.1:c.7910del	XP_006721990.1:p.Val2637GlufsTer17
XM_011524852.1:c.7907del	XP_011523154.1:p.Val2636GlufsTer17
XM_011524853.1:c.7871del	XP_011523155.1:p.Val2624GlufsTer17
XM_011524854.1:c.7871del	XP_011523156.1:p.Val2624GlufsTer17
XM_011524855.1:c.7871del	XP_011523157.1:p.Val2624GlufsTer17
XM_011524856.1:c.7871del	XP_011523158.1:p.Val2624GlufsTer17
XM_011524857.1:c.7787del	XP_011523159.1:p.Val2596GlufsTer17
NM_001042492.3:c.7880del MANE Select	NP_001035957.1:p.Val2627GlufsTer17