Canonical Allele Identifier: CA2255602823

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338032_31338035delinsTTCC , CM000679.2:g.31338032_31338035delinsTTCC	GRCh38
NC_000017.10:g.29665050_29665053delinsTTCC , CM000679.1:g.29665050_29665053delinsTTCC	GRCh37
NC_000017.9:g.26689176_26689179delinsTTCC	NCBI36
NG_009018.1:g.248056_248059delinsTTCC , LRG_214:g.248056_248059delinsTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6694_6697delinsTTCC	ENSP00000512431.1:p.Phe2232=
ENST00000684826.1:c.1276_1279delinsTTCC	ENSP00000509994.1:p.Phe426=
ENST00000684998.1:n.1970_1973delinsTTCC
ENST00000687027.1:c.868_871delinsTTCC	ENSP00000508715.1:p.Phe290=
ENST00000687863.1:n.3357_3360delinsTTCC
ENST00000691014.1:c.6742_6745delinsTTCC	ENSP00000510595.1:p.Phe2248=
ENST00000693617.1:c.1276_1279delinsTTCC	ENSP00000510031.1:p.Phe426=
ENST00000358273.9:c.6712_6715delinsTTCC MANE Select	ENSP00000351015.4:p.Phe2238=
ENST00000356175.7:c.6649_6652delinsTTCC	ENSP00000348498.3:p.Phe2217=
ENST00000358273.8:c.6712_6715delinsTTCC	ENSP00000351015.4:p.Phe2238=
ENST00000456735.6:c.5647_5650delinsTTCC	ENSP00000389907.2:p.Phe1883=
ENST00000471572.6:c.95_98delinsTTCC
ENST00000579081.5:c.6848_6851delinsTTCC	ENSP00000462408.1:n.6848_6851delinsTTCC
ENST00000581790.5:c.64+152_64+155delinsTTCC
ENST00000584328.1:n.126_129delinsTTCC
NM_000267.3:c.6649_6652delinsTTCC , LRG_214t1:c.6649_6652delinsTTCC	NP_000258.1:p.Phe2217=
NM_001042492.2:c.6712_6715delinsTTCC , LRG_214t2:c.6712_6715delinsTTCC	NP_001035957.1:p.Phe2238=
XM_005257983.1:c.6712_6715delinsTTCC	XP_005258040.1:p.Phe2238=
XM_005257984.1:c.6649_6652delinsTTCC	XP_005258041.1:p.Phe2217=
XM_006721922.1:c.6742_6745delinsTTCC	XP_006721985.1:p.Phe2248=
XM_006721923.2:c.6703_6706delinsTTCC	XP_006721986.1:p.Phe2235=
XM_006721924.1:c.6742_6745delinsTTCC	XP_006721987.1:p.Phe2248=
XM_006721925.1:c.6679_6682delinsTTCC	XP_006721988.1:p.Phe2227=
XM_006721926.2:c.6742_6745delinsTTCC	XP_006721989.1:p.Phe2248=
XM_006721927.1:c.6742_6745delinsTTCC	XP_006721990.1:p.Phe2248=
XM_011524852.1:c.6739_6742delinsTTCC	XP_011523154.1:p.Phe2247=
XM_011524853.1:c.6703_6706delinsTTCC	XP_011523155.1:p.Phe2235=
XM_011524854.1:c.6703_6706delinsTTCC	XP_011523156.1:p.Phe2235=
XM_011524855.1:c.6703_6706delinsTTCC	XP_011523157.1:p.Phe2235=
XM_011524856.1:c.6703_6706delinsTTCC	XP_011523158.1:p.Phe2235=
XM_011524857.1:c.6742_6745delinsTTCC	XP_011523159.1:p.Phe2248=
NM_001042492.3:c.6712_6715delinsTTCC MANE Select	NP_001035957.1:p.Phe2238=