Canonical Allele Identifier: CA2255603161

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338789_31338790delinsAG , CM000679.2:g.31338789_31338790delinsAG	GRCh38
NC_000017.10:g.29665807_29665808delinsAG , CM000679.1:g.29665807_29665808delinsAG	GRCh37
NC_000017.9:g.26689933_26689934delinsAG	NCBI36
NG_009018.1:g.248813_248814delinsAG , LRG_214:g.248813_248814delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6887_6888delinsAG	ENSP00000512431.1:p.Gln2296=
ENST00000684826.1:c.1469_1470delinsAG	ENSP00000509994.1:p.Gln490=
ENST00000684998.1:n.2727_2728delinsAG
ENST00000687027.1:c.1061_1062delinsAG	ENSP00000508715.1:p.Gln354=
ENST00000687863.1:n.3550_3551delinsAG
ENST00000691014.1:c.6935_6936delinsAG	ENSP00000510595.1:p.Gln2312=
ENST00000693617.1:c.1469_1470delinsAG	ENSP00000510031.1:p.Gln490=
ENST00000358273.9:c.6905_6906delinsAG MANE Select	ENSP00000351015.4:p.Gln2302=
ENST00000356175.7:c.6842_6843delinsAG	ENSP00000348498.3:p.Gln2281=
ENST00000358273.8:c.6905_6906delinsAG	ENSP00000351015.4:p.Gln2302=
ENST00000456735.6:c.5840_5841delinsAG	ENSP00000389907.2:p.Gln1947=
ENST00000471572.6:c.288_289delinsAG
ENST00000579081.5:c.7041_7042delinsAG	ENSP00000462408.1:n.7041_7042delinsAG
ENST00000581790.5:c.64+909_64+910delinsAG
ENST00000584328.1:n.319_320delinsAG
NM_000267.3:c.6842_6843delinsAG , LRG_214t1:c.6842_6843delinsAG	NP_000258.1:p.Gln2281=
NM_001042492.2:c.6905_6906delinsAG , LRG_214t2:c.6905_6906delinsAG	NP_001035957.1:p.Gln2302=
XM_005257983.1:c.6905_6906delinsAG	XP_005258040.1:p.Gln2302=
XM_005257984.1:c.6842_6843delinsAG	XP_005258041.1:p.Gln2281=
XM_006721922.1:c.6935_6936delinsAG	XP_006721985.1:p.Gln2312=
XM_006721923.2:c.6896_6897delinsAG	XP_006721986.1:p.Gln2299=
XM_006721924.1:c.6935_6936delinsAG	XP_006721987.1:p.Gln2312=
XM_006721925.1:c.6872_6873delinsAG	XP_006721988.1:p.Gln2291=
XM_006721926.2:c.6935_6936delinsAG	XP_006721989.1:p.Gln2312=
XM_006721927.1:c.6935_6936delinsAG	XP_006721990.1:p.Gln2312=
XM_011524852.1:c.6932_6933delinsAG	XP_011523154.1:p.Gln2311=
XM_011524853.1:c.6896_6897delinsAG	XP_011523155.1:p.Gln2299=
XM_011524854.1:c.6896_6897delinsAG	XP_011523156.1:p.Gln2299=
XM_011524855.1:c.6896_6897delinsAG	XP_011523157.1:p.Gln2299=
XM_011524856.1:c.6896_6897delinsAG	XP_011523158.1:p.Gln2299=
XM_011524857.1:c.6935_6936delinsAG	XP_011523159.1:p.Gln2312=
NM_001042492.3:c.6905_6906delinsAG MANE Select	NP_001035957.1:p.Gln2302=