Canonical Allele Identifier: CA1139665377

Gene: NF1

Linked Data

• ClinVar Variation Id: 935040
• ClinVar RCV Id: RCV001203544
• dbSNP Id: rs2067765927

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265282del , CM000679.2:g.31265282del	GRCh38
NC_000017.10:g.29592300del , CM000679.1:g.29592300del	GRCh37
NC_000017.9:g.26616426del	NCBI36
NG_009018.1:g.175306del , LRG_214:g.175306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.580del	ENSP00000492721.2:n.580del
ENST00000696138.1:c.4760del	ENSP00000512431.1:p.Phe1587SerfsTer?
ENST00000696140.1:n.884del
ENST00000696141.1:c.769del
ENST00000687863.1:n.1423del
ENST00000691014.1:c.4808del	ENSP00000510595.1:p.Phe1603SerfsTer?
ENST00000358273.9:c.4778del MANE Select	ENSP00000351015.4:p.Phe1593SerfsTer?
ENST00000356175.7:c.4715del	ENSP00000348498.3:p.Phe1572SerfsTer?
ENST00000358273.8:c.4778del	ENSP00000351015.4:p.Phe1593SerfsTer?
ENST00000456735.6:c.3713del	ENSP00000389907.2:p.Phe1238SerfsTer?
ENST00000493220.5:n.3251del
ENST00000579081.5:c.4817del	ENSP00000462408.1:p.Phe1606SerfsTer27
NM_000267.3:c.4715del , LRG_214t1:c.4715del	NP_000258.1:p.Phe1572SerfsTer?
NM_001042492.2:c.4778del , LRG_214t2:c.4778del	NP_001035957.1:p.Phe1593SerfsTer?
XM_005257983.1:c.4778del	XP_005258040.1:p.Phe1593SerfsTer?
XM_005257984.1:c.4715del	XP_005258041.1:p.Phe1572SerfsTer?
XM_006721922.1:c.4808del	XP_006721985.1:p.Phe1603SerfsTer?
XM_006721923.2:c.4769del	XP_006721986.1:p.Phe1590SerfsTer?
XM_006721924.1:c.4808del	XP_006721987.1:p.Phe1603SerfsTer?
XM_006721925.1:c.4745del	XP_006721988.1:p.Phe1582SerfsTer?
XM_006721926.2:c.4808del	XP_006721989.1:p.Phe1603SerfsTer?
XM_006721927.1:c.4808del	XP_006721990.1:p.Phe1603SerfsTer?
XM_006721928.2:c.4808del	XP_006721991.1:p.Phe1603SerfsTer?
XM_011524852.1:c.4805del	XP_011523154.1:p.Phe1602SerfsTer?
XM_011524853.1:c.4769del	XP_011523155.1:p.Phe1590SerfsTer?
XM_011524854.1:c.4769del	XP_011523156.1:p.Phe1590SerfsTer?
XM_011524855.1:c.4769del	XP_011523157.1:p.Phe1590SerfsTer?
XM_011524856.1:c.4769del	XP_011523158.1:p.Phe1590SerfsTer?
XM_011524857.1:c.4808del	XP_011523159.1:p.Phe1603SerfsTer?
NM_001042492.3:c.4778del MANE Select	NP_001035957.1:p.Phe1593SerfsTer?