Canonical Allele Identifier: CA2255605110

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343101_31343102delinsCT , CM000679.2:g.31343101_31343102delinsCT	GRCh38
NC_000017.10:g.29670119_29670120delinsCT , CM000679.1:g.29670119_29670120delinsCT	GRCh37
NC_000017.9:g.26694245_26694246delinsCT	NCBI36
NG_009018.1:g.253125_253126delinsCT , LRG_214:g.253125_253126delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7137_7138delinsCT	ENSP00000512431.1:p.Asn2379=
ENST00000684826.1:c.1719_1720delinsCT	ENSP00000509994.1:p.Asn573=
ENST00000687027.1:c.1311_1312delinsCT	ENSP00000508715.1:p.Asn437=
ENST00000687863.1:n.3800_3801delinsCT
ENST00000689464.1:c.94_95delinsCT
ENST00000691014.1:c.7185_7186delinsCT	ENSP00000510595.1:p.Asn2395=
ENST00000693617.1:c.1719_1720delinsCT	ENSP00000510031.1:p.Asn573=
ENST00000358273.9:c.7155_7156delinsCT MANE Select	ENSP00000351015.4:p.Asn2385=
ENST00000356175.7:c.7092_7093delinsCT	ENSP00000348498.3:p.Asn2364=
ENST00000358273.8:c.7155_7156delinsCT	ENSP00000351015.4:p.Asn2385=
ENST00000456735.6:c.6090_6091delinsCT	ENSP00000389907.2:p.Asn2030=
ENST00000471572.6:c.538_539delinsCT
ENST00000579081.5:c.7291_7292delinsCT	ENSP00000462408.1:n.7291_7292delinsCT
ENST00000581790.5:c.298_299delinsCT
ENST00000582892.1:n.397_398delinsCT
NM_000267.3:c.7092_7093delinsCT , LRG_214t1:c.7092_7093delinsCT	NP_000258.1:p.Asn2364=
NM_001042492.2:c.7155_7156delinsCT , LRG_214t2:c.7155_7156delinsCT	NP_001035957.1:p.Asn2385=
XM_005257983.1:c.7155_7156delinsCT	XP_005258040.1:p.Asn2385=
XM_005257984.1:c.7092_7093delinsCT	XP_005258041.1:p.Asn2364=
XM_006721922.1:c.7185_7186delinsCT	XP_006721985.1:p.Asn2395=
XM_006721923.2:c.7146_7147delinsCT	XP_006721986.1:p.Asn2382=
XM_006721924.1:c.7185_7186delinsCT	XP_006721987.1:p.Asn2395=
XM_006721925.1:c.7122_7123delinsCT	XP_006721988.1:p.Asn2374=
XM_006721926.2:c.7185_7186delinsCT	XP_006721989.1:p.Asn2395=
XM_006721927.1:c.7185_7186delinsCT	XP_006721990.1:p.Asn2395=
XM_011524852.1:c.7182_7183delinsCT	XP_011523154.1:p.Asn2394=
XM_011524853.1:c.7146_7147delinsCT	XP_011523155.1:p.Asn2382=
XM_011524854.1:c.7146_7147delinsCT	XP_011523156.1:p.Asn2382=
XM_011524855.1:c.7146_7147delinsCT	XP_011523157.1:p.Asn2382=
XM_011524856.1:c.7146_7147delinsCT	XP_011523158.1:p.Asn2382=
XM_011524857.1:c.7185_7186delinsCT	XP_011523159.1:p.Asn2395=
NM_001042492.3:c.7155_7156delinsCT MANE Select	NP_001035957.1:p.Asn2385=