Canonical Allele Identifier: CA2739267357

Gene: NF1

Linked Data

• ClinVar Variation Id: 2816682
• ClinVar RCV Id: RCV003599107

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229209del , CM000679.2:g.31229209del	GRCh38
NC_000017.10:g.29556227del , CM000679.1:g.29556227del	GRCh37
NC_000017.9:g.26580353del	NCBI36
NG_009018.1:g.139233del , LRG_214:g.139233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.2639del	ENSP00000512431.1:p.Pro880HisfsTer13
ENST00000691014.1:c.2624del	ENSP00000510595.1:p.Pro875HisfsTer13
ENST00000358273.9:c.2594del MANE Select	ENSP00000351015.4:p.Pro865HisfsTer13
ENST00000356175.7:c.2594del	ENSP00000348498.3:p.Pro865HisfsTer13
ENST00000358273.8:c.2594del	ENSP00000351015.4:p.Pro865HisfsTer13
ENST00000456735.6:c.1592del	ENSP00000389907.2:p.Pro531HisfsTer13
ENST00000493220.5:n.761del
ENST00000495910.6:c.2369del
ENST00000579081.5:c.2696del	ENSP00000462408.1:p.Pro899HisfsTer13
NM_000267.3:c.2594del , LRG_214t1:c.2594del	NP_000258.1:p.Pro865HisfsTer13
NM_001042492.2:c.2594del , LRG_214t2:c.2594del	NP_001035957.1:p.Pro865HisfsTer13
XM_005257983.1:c.2594del	XP_005258040.1:p.Pro865HisfsTer13
XM_005257984.1:c.2594del	XP_005258041.1:p.Pro865HisfsTer13
XM_006721922.1:c.2624del	XP_006721985.1:p.Pro875HisfsTer13
XM_006721923.2:c.2585del	XP_006721986.1:p.Pro862HisfsTer13
XM_006721924.1:c.2624del	XP_006721987.1:p.Pro875HisfsTer13
XM_006721925.1:c.2624del	XP_006721988.1:p.Pro875HisfsTer13
XM_006721926.2:c.2624del	XP_006721989.1:p.Pro875HisfsTer13
XM_006721927.1:c.2624del	XP_006721990.1:p.Pro875HisfsTer13
XM_006721928.2:c.2624del	XP_006721991.1:p.Pro875HisfsTer13
XM_011524852.1:c.2621del	XP_011523154.1:p.Pro874HisfsTer13
XM_011524853.1:c.2585del	XP_011523155.1:p.Pro862HisfsTer13
XM_011524854.1:c.2585del	XP_011523156.1:p.Pro862HisfsTer13
XM_011524855.1:c.2585del	XP_011523157.1:p.Pro862HisfsTer13
XM_011524856.1:c.2585del	XP_011523158.1:p.Pro862HisfsTer13
XM_011524857.1:c.2624del	XP_011523159.1:p.Pro875HisfsTer13
NM_001042492.3:c.2594del MANE Select	NP_001035957.1:p.Pro865HisfsTer13