Canonical Allele Identifier: CA3250151730

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343107_31343108delinsAA , CM000679.2:g.31343107_31343108delinsAA	GRCh38
NC_000017.10:g.29670125_29670126delinsAA , CM000679.1:g.29670125_29670126delinsAA	GRCh37
NC_000017.9:g.26694251_26694252delinsAA	NCBI36
NG_009018.1:g.253131_253132delinsAA , LRG_214:g.253131_253132delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7161_7162delinsAA MANE Select	NP_001035957.1:p.Asn2387_Phe2388delinsLysIle
ENST00000358273.9:c.7161_7162delinsAA MANE Select	ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle
NM_000267.3:c.7098_7099delinsAA , LRG_214t1:c.7098_7099delinsAA	NP_000258.1:p.Asn2366_Phe2367delinsLysIle
NM_001042492.2:c.7161_7162delinsAA , LRG_214t2:c.7161_7162delinsAA	NP_001035957.1:p.Asn2387_Phe2388delinsLysIle
ENST00000356175.7:c.7098_7099delinsAA	ENSP00000348498.3:p.Asn2366_Phe2367delinsLysIle
ENST00000358273.8:c.7161_7162delinsAA	ENSP00000351015.4:p.Asn2387_Phe2388delinsLysIle
ENST00000456735.6:c.6096_6097delinsAA	ENSP00000389907.2:p.Asn2032_Phe2033delinsLysIle
ENST00000471572.6:c.544_545delinsAA
ENST00000579081.5:c.7297_7298delinsAA	ENSP00000462408.1:n.7297_7298delinsAA
ENST00000581790.5:c.304_305delinsAA
ENST00000582892.1:n.403_404delinsAA
ENST00000684826.1:c.1725_1726delinsAA	ENSP00000509994.1:p.Asn575_Phe576delinsLysIle
ENST00000687027.1:c.1317_1318delinsAA	ENSP00000508715.1:p.Asn439_Phe440delinsLysIle
ENST00000687863.1:n.3806_3807delinsAA
ENST00000689464.1:c.100_101delinsAA
ENST00000691014.1:c.7191_7192delinsAA	ENSP00000510595.1:p.Asn2397_Phe2398delinsLysIle
ENST00000693617.1:c.1725_1726delinsAA	ENSP00000510031.1:p.Asn575_Phe576delinsLysIle
ENST00000696138.1:c.7143_7144delinsAA	ENSP00000512431.1:p.Asn2381_Phe2382delinsLysIle
XM_005257983.1:c.7161_7162delinsAA	XP_005258040.1:p.Asn2387_Phe2388delinsLysIle
XM_005257984.1:c.7098_7099delinsAA	XP_005258041.1:p.Asn2366_Phe2367delinsLysIle
XM_006721922.1:c.7191_7192delinsAA	XP_006721985.1:p.Asn2397_Phe2398delinsLysIle
XM_006721923.2:c.7152_7153delinsAA	XP_006721986.1:p.Asn2384_Phe2385delinsLysIle
XM_006721924.1:c.7191_7192delinsAA	XP_006721987.1:p.Asn2397_Phe2398delinsLysIle
XM_006721925.1:c.7128_7129delinsAA	XP_006721988.1:p.Asn2376_Phe2377delinsLysIle
XM_006721926.2:c.7191_7192delinsAA	XP_006721989.1:p.Asn2397_Phe2398delinsLysIle
XM_006721927.1:c.7191_7192delinsAA	XP_006721990.1:p.Asn2397_Phe2398delinsLysIle
XM_011524852.1:c.7188_7189delinsAA	XP_011523154.1:p.Asn2396_Phe2397delinsLysIle
XM_011524853.1:c.7152_7153delinsAA	XP_011523155.1:p.Asn2384_Phe2385delinsLysIle
XM_011524854.1:c.7152_7153delinsAA	XP_011523156.1:p.Asn2384_Phe2385delinsLysIle
XM_011524855.1:c.7152_7153delinsAA	XP_011523157.1:p.Asn2384_Phe2385delinsLysIle
XM_011524856.1:c.7152_7153delinsAA	XP_011523158.1:p.Asn2384_Phe2385delinsLysIle
XM_011524857.1:c.7191_7192delinsAA	XP_011523159.1:p.Asn2397_Phe2398delinsLysIle