Canonical Allele Identifier: CA2255602872

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338117_31338118delinsAG , CM000679.2:g.31338117_31338118delinsAG	GRCh38
NC_000017.10:g.29665135_29665136delinsAG , CM000679.1:g.29665135_29665136delinsAG	GRCh37
NC_000017.9:g.26689261_26689262delinsAG	NCBI36
NG_009018.1:g.248141_248142delinsAG , LRG_214:g.248141_248142delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6779_6780delinsAG	ENSP00000512431.1:p.Gln2260=
ENST00000684826.1:c.1361_1362delinsAG	ENSP00000509994.1:p.Gln454=
ENST00000684998.1:n.2055_2056delinsAG
ENST00000687027.1:c.953_954delinsAG	ENSP00000508715.1:p.Gln318=
ENST00000687863.1:n.3442_3443delinsAG
ENST00000691014.1:c.6827_6828delinsAG	ENSP00000510595.1:p.Gln2276=
ENST00000693617.1:c.1361_1362delinsAG	ENSP00000510031.1:p.Gln454=
ENST00000358273.9:c.6797_6798delinsAG MANE Select	ENSP00000351015.4:p.Gln2266=
ENST00000356175.7:c.6734_6735delinsAG	ENSP00000348498.3:p.Gln2245=
ENST00000358273.8:c.6797_6798delinsAG	ENSP00000351015.4:p.Gln2266=
ENST00000456735.6:c.5732_5733delinsAG	ENSP00000389907.2:p.Gln1911=
ENST00000471572.6:c.180_181delinsAG
ENST00000579081.5:c.6933_6934delinsAG	ENSP00000462408.1:n.6933_6934delinsAG
ENST00000581790.5:c.64+237_64+238delinsAG
ENST00000584328.1:n.211_212delinsAG
NM_000267.3:c.6734_6735delinsAG , LRG_214t1:c.6734_6735delinsAG	NP_000258.1:p.Gln2245=
NM_001042492.2:c.6797_6798delinsAG , LRG_214t2:c.6797_6798delinsAG	NP_001035957.1:p.Gln2266=
XM_005257983.1:c.6797_6798delinsAG	XP_005258040.1:p.Gln2266=
XM_005257984.1:c.6734_6735delinsAG	XP_005258041.1:p.Gln2245=
XM_006721922.1:c.6827_6828delinsAG	XP_006721985.1:p.Gln2276=
XM_006721923.2:c.6788_6789delinsAG	XP_006721986.1:p.Gln2263=
XM_006721924.1:c.6827_6828delinsAG	XP_006721987.1:p.Gln2276=
XM_006721925.1:c.6764_6765delinsAG	XP_006721988.1:p.Gln2255=
XM_006721926.2:c.6827_6828delinsAG	XP_006721989.1:p.Gln2276=
XM_006721927.1:c.6827_6828delinsAG	XP_006721990.1:p.Gln2276=
XM_011524852.1:c.6824_6825delinsAG	XP_011523154.1:p.Gln2275=
XM_011524853.1:c.6788_6789delinsAG	XP_011523155.1:p.Gln2263=
XM_011524854.1:c.6788_6789delinsAG	XP_011523156.1:p.Gln2263=
XM_011524855.1:c.6788_6789delinsAG	XP_011523157.1:p.Gln2263=
XM_011524856.1:c.6788_6789delinsAG	XP_011523158.1:p.Gln2263=
XM_011524857.1:c.6827_6828delinsAG	XP_011523159.1:p.Gln2276=
NM_001042492.3:c.6797_6798delinsAG MANE Select	NP_001035957.1:p.Gln2266=