Canonical Allele Identifier: CA2255605044

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343001_31343003delinsTTT , CM000679.2:g.31343001_31343003delinsTTT	GRCh38
NC_000017.10:g.29670019_29670021delinsTTT , CM000679.1:g.29670019_29670021delinsTTT	GRCh37
NC_000017.9:g.26694145_26694147delinsTTT	NCBI36
NG_009018.1:g.253025_253027delinsTTT , LRG_214:g.253025_253027delinsTTT

Transcript Alleles

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