Canonical Allele Identifier: CA2255605041

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343000_31343001delinsCT , CM000679.2:g.31343000_31343001delinsCT	GRCh38
NC_000017.10:g.29670018_29670019delinsCT , CM000679.1:g.29670018_29670019delinsCT	GRCh37
NC_000017.9:g.26694144_26694145delinsCT	NCBI36
NG_009018.1:g.253024_253025delinsCT , LRG_214:g.253024_253025delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7045-9_7045-8delinsCT	ENSP00000512431.1:n.7045-9_7045-8delinsCT
ENST00000684826.1:c.1627-9_1627-8delinsCT	ENSP00000509994.1:n.1627-9_1627-8delinsCT
ENST00000687027.1:c.1219-9_1219-8delinsCT	ENSP00000508715.1:n.1219-9_1219-8delinsCT
ENST00000687863.1:n.3708-9_3708-8delinsCT
ENST00000691014.1:c.7093-9_7093-8delinsCT	ENSP00000510595.1:n.7093-9_7093-8delinsCT
ENST00000693617.1:c.1627-9_1627-8delinsCT	ENSP00000510031.1:n.1627-9_1627-8delinsCT
ENST00000358273.9:c.7063-9_7063-8delinsCT MANE Select	ENSP00000351015.4:n.7063-9_7063-8delinsCT
ENST00000356175.7:c.7000-9_7000-8delinsCT	ENSP00000348498.3:n.7000-9_7000-8delinsCT
ENST00000358273.8:c.7063-9_7063-8delinsCT	ENSP00000351015.4:n.7063-9_7063-8delinsCT
ENST00000456735.6:c.5998-9_5998-8delinsCT	ENSP00000389907.2:n.5998-9_5998-8delinsCT
ENST00000471572.6:c.446-9_446-8delinsCT
ENST00000579081.5:c.7199-9_7199-8delinsCT	ENSP00000462408.1:n.7199-9_7199-8delinsCT
ENST00000581790.5:c.206-9_206-8delinsCT
ENST00000582892.1:n.305-9_305-8delinsCT
ENST00000584328.1:n.477-9_477-8delinsCT
NM_000267.3:c.7000-9_7000-8delinsCT , LRG_214t1:c.7000-9_7000-8delinsCT	NP_000258.1:n.7000-9_7000-8delinsCT
NM_001042492.2:c.7063-9_7063-8delinsCT , LRG_214t2:c.7063-9_7063-8delinsCT	NP_001035957.1:n.7063-9_7063-8delinsCT
XM_005257983.1:c.7063-9_7063-8delinsCT	XP_005258040.1:n.7063-9_7063-8delinsCT
XM_005257984.1:c.7000-9_7000-8delinsCT	XP_005258041.1:n.7000-9_7000-8delinsCT
XM_006721922.1:c.7093-9_7093-8delinsCT	XP_006721985.1:n.7093-9_7093-8delinsCT
XM_006721923.2:c.7054-9_7054-8delinsCT	XP_006721986.1:n.7054-9_7054-8delinsCT
XM_006721924.1:c.7093-9_7093-8delinsCT	XP_006721987.1:n.7093-9_7093-8delinsCT
XM_006721925.1:c.7030-9_7030-8delinsCT	XP_006721988.1:n.7030-9_7030-8delinsCT
XM_006721926.2:c.7093-9_7093-8delinsCT	XP_006721989.1:n.7093-9_7093-8delinsCT
XM_006721927.1:c.7093-9_7093-8delinsCT	XP_006721990.1:n.7093-9_7093-8delinsCT
XM_011524852.1:c.7090-9_7090-8delinsCT	XP_011523154.1:n.7090-9_7090-8delinsCT
XM_011524853.1:c.7054-9_7054-8delinsCT	XP_011523155.1:n.7054-9_7054-8delinsCT
XM_011524854.1:c.7054-9_7054-8delinsCT	XP_011523156.1:n.7054-9_7054-8delinsCT
XM_011524855.1:c.7054-9_7054-8delinsCT	XP_011523157.1:n.7054-9_7054-8delinsCT
XM_011524856.1:c.7054-9_7054-8delinsCT	XP_011523158.1:n.7054-9_7054-8delinsCT
XM_011524857.1:c.7093-9_7093-8delinsCT	XP_011523159.1:n.7093-9_7093-8delinsCT
NM_001042492.3:c.7063-9_7063-8delinsCT MANE Select	NP_001035957.1:n.7063-9_7063-8delinsCT