Canonical Allele Identifier: CA645373103

Gene: NF1

Linked Data

• ClinVar Variation Id: 431672
• ClinVar RCV Id: RCV000497203
• dbSNP Id: rs1135402887

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337392_31337396delinsA , CM000679.2:g.31337392_31337396delinsA	GRCh38
NC_000017.10:g.29664410_29664414delinsA , CM000679.1:g.29664410_29664414delinsA	GRCh37
NC_000017.9:g.26688536_26688540delinsA	NCBI36
NG_009018.1:g.247416_247420delinsA , LRG_214:g.247416_247420delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6434_6438delinsA	ENSP00000512431.1:p.Leu2145HisfsTer2
ENST00000684826.1:c.1016_1020delinsA	ENSP00000509994.1:p.Leu339HisfsTer2
ENST00000684998.1:n.1330_1334delinsA
ENST00000687027.1:c.608_612delinsA	ENSP00000508715.1:p.Leu203HisfsTer2
ENST00000687863.1:n.3097_3101delinsA
ENST00000691014.1:c.6482_6486delinsA	ENSP00000510595.1:p.Leu2161HisfsTer2
ENST00000693617.1:c.1016_1020delinsA	ENSP00000510031.1:p.Leu339HisfsTer2
ENST00000358273.9:c.6452_6456delinsA MANE Select	ENSP00000351015.4:p.Leu2151HisfsTer2
ENST00000356175.7:c.6389_6393delinsA	ENSP00000348498.3:p.Leu2130HisfsTer2
ENST00000358273.8:c.6452_6456delinsA	ENSP00000351015.4:p.Leu2151HisfsTer2
ENST00000456735.6:c.5387_5391delinsA	ENSP00000389907.2:p.Leu1796HisfsTer2
ENST00000579081.5:c.6588_6592delinsA	ENSP00000462408.1:n.6588_6592delinsA
NM_000267.3:c.6389_6393delinsA , LRG_214t1:c.6389_6393delinsA	NP_000258.1:p.Leu2130HisfsTer2
NM_001042492.2:c.6452_6456delinsA , LRG_214t2:c.6452_6456delinsA	NP_001035957.1:p.Leu2151HisfsTer2
XM_005257983.1:c.6452_6456delinsA	XP_005258040.1:p.Leu2151HisfsTer2
XM_005257984.1:c.6389_6393delinsA	XP_005258041.1:p.Leu2130HisfsTer2
XM_006721922.1:c.6482_6486delinsA	XP_006721985.1:p.Leu2161HisfsTer2
XM_006721923.2:c.6443_6447delinsA	XP_006721986.1:p.Leu2148HisfsTer2
XM_006721924.1:c.6482_6486delinsA	XP_006721987.1:p.Leu2161HisfsTer2
XM_006721925.1:c.6419_6423delinsA	XP_006721988.1:p.Leu2140HisfsTer2
XM_006721926.2:c.6482_6486delinsA	XP_006721989.1:p.Leu2161HisfsTer2
XM_006721927.1:c.6482_6486delinsA	XP_006721990.1:p.Leu2161HisfsTer2
XM_011524852.1:c.6479_6483delinsA	XP_011523154.1:p.Leu2160HisfsTer2
XM_011524853.1:c.6443_6447delinsA	XP_011523155.1:p.Leu2148HisfsTer2
XM_011524854.1:c.6443_6447delinsA	XP_011523156.1:p.Leu2148HisfsTer2
XM_011524855.1:c.6443_6447delinsA	XP_011523157.1:p.Leu2148HisfsTer2
XM_011524856.1:c.6443_6447delinsA	XP_011523158.1:p.Leu2148HisfsTer2
XM_011524857.1:c.6482_6486delinsA	XP_011523159.1:p.Leu2161HisfsTer2
NM_001042492.3:c.6452_6456delinsA MANE Select	NP_001035957.1:p.Leu2151HisfsTer2