Canonical Allele Identifier: CA2255542082

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31181698_31181702delinsCTTTA , CM000679.2:g.31181698_31181702delinsCTTTA	GRCh38
NC_000017.10:g.29508716_29508720delinsCTTTA , CM000679.1:g.29508716_29508720delinsCTTTA	GRCh37
NC_000017.9:g.26532842_26532846delinsCTTTA	NCBI36
NG_009018.1:g.91722_91726delinsCTTTA , LRG_214:g.91722_91726delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.655-12_655-8delinsCTTTA	ENSP00000512431.1:n.655-12_655-8delinsCTTTA
ENST00000686189.1:c.70-12_70-8delinsCTTTA	ENSP00000509682.1:n.70-12_70-8delinsCTTTA
ENST00000691014.1:c.655-12_655-8delinsCTTTA	ENSP00000510595.1:n.655-12_655-8delinsCTTTA
ENST00000358273.9:c.655-12_655-8delinsCTTTA MANE Select	ENSP00000351015.4:n.655-12_655-8delinsCTTTA
ENST00000490416.2:c.235-12_235-8delinsCTTTA	ENSP00000491431.1:n.235-12_235-8delinsCTTTA
ENST00000356175.7:c.655-12_655-8delinsCTTTA	ENSP00000348498.3:n.655-12_655-8delinsCTTTA
ENST00000358273.8:c.655-12_655-8delinsCTTTA	ENSP00000351015.4:n.655-12_655-8delinsCTTTA
ENST00000431387.8:c.655-12_655-8delinsCTTTA	ENSP00000412921.4:n.655-12_655-8delinsCTTTA
ENST00000487476.5:n.1038-12_1038-8delinsCTTTA
ENST00000490416.1:n.289-12_289-8delinsCTTTA
ENST00000495910.6:c.430-12_430-8delinsCTTTA
ENST00000579081.5:c.757-12_757-8delinsCTTTA	ENSP00000462408.1:n.757-12_757-8delinsCTTTA
NM_000267.3:c.655-12_655-8delinsCTTTA , LRG_214t1:c.655-12_655-8delinsCTTTA	NP_000258.1:n.655-12_655-8delinsCTTTA
NM_001042492.2:c.655-12_655-8delinsCTTTA , LRG_214t2:c.655-12_655-8delinsCTTTA	NP_001035957.1:n.655-12_655-8delinsCTTTA
NM_001128147.2:c.655-12_655-8delinsCTTTA	NP_001121619.1:n.655-12_655-8delinsCTTTA
XM_005257983.1:c.655-12_655-8delinsCTTTA	XP_005258040.1:n.655-12_655-8delinsCTTTA
XM_005257984.1:c.655-12_655-8delinsCTTTA	XP_005258041.1:n.655-12_655-8delinsCTTTA
XM_006721922.1:c.655-12_655-8delinsCTTTA	XP_006721985.1:n.655-12_655-8delinsCTTTA
XM_006721923.2:c.616-12_616-8delinsCTTTA	XP_006721986.1:n.616-12_616-8delinsCTTTA
XM_006721924.1:c.655-12_655-8delinsCTTTA	XP_006721987.1:n.655-12_655-8delinsCTTTA
XM_006721925.1:c.655-12_655-8delinsCTTTA	XP_006721988.1:n.655-12_655-8delinsCTTTA
XM_006721926.2:c.655-12_655-8delinsCTTTA	XP_006721989.1:n.655-12_655-8delinsCTTTA
XM_006721927.1:c.655-12_655-8delinsCTTTA	XP_006721990.1:n.655-12_655-8delinsCTTTA
XM_006721928.2:c.655-12_655-8delinsCTTTA	XP_006721991.1:n.655-12_655-8delinsCTTTA
XM_011524852.1:c.655-12_655-8delinsCTTTA	XP_011523154.1:n.655-12_655-8delinsCTTTA
XM_011524853.1:c.616-12_616-8delinsCTTTA	XP_011523155.1:n.616-12_616-8delinsCTTTA
XM_011524854.1:c.616-12_616-8delinsCTTTA	XP_011523156.1:n.616-12_616-8delinsCTTTA
XM_011524855.1:c.616-12_616-8delinsCTTTA	XP_011523157.1:n.616-12_616-8delinsCTTTA
XM_011524856.1:c.616-12_616-8delinsCTTTA	XP_011523158.1:n.616-12_616-8delinsCTTTA
XM_011524857.1:c.655-12_655-8delinsCTTTA	XP_011523159.1:n.655-12_655-8delinsCTTTA
NM_001042492.3:c.655-12_655-8delinsCTTTA MANE Select	NP_001035957.1:n.655-12_655-8delinsCTTTA
NM_001128147.3:c.655-12_655-8delinsCTTTA	NP_001121619.1:n.655-12_655-8delinsCTTTA