Canonical Allele Identifier: CA2695225189

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338776del , CM000679.2:g.31338776del	GRCh38
NC_000017.10:g.29665794del , CM000679.1:g.29665794del	GRCh37
NC_000017.9:g.26689920del	NCBI36
NG_009018.1:g.248800del , LRG_214:g.248800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6874del	ENSP00000512431.1:p.Leu2292Ter
ENST00000684826.1:c.1456del	ENSP00000509994.1:p.Leu486Ter
ENST00000684998.1:n.2714del
ENST00000687027.1:c.1048del	ENSP00000508715.1:p.Leu350Ter
ENST00000687863.1:n.3537del
ENST00000691014.1:c.6922del	ENSP00000510595.1:p.Leu2308Ter
ENST00000693617.1:c.1456del	ENSP00000510031.1:p.Leu486Ter
ENST00000358273.9:c.6892del MANE Select	ENSP00000351015.4:p.Leu2298Ter
ENST00000356175.7:c.6829del	ENSP00000348498.3:p.Leu2277Ter
ENST00000358273.8:c.6892del	ENSP00000351015.4:p.Leu2298Ter
ENST00000456735.6:c.5827del	ENSP00000389907.2:p.Leu1943Ter
ENST00000471572.6:c.275del
ENST00000579081.5:c.7028del	ENSP00000462408.1:n.7028del
ENST00000581790.5:c.64+896del
ENST00000584328.1:n.306del
NM_000267.3:c.6829del , LRG_214t1:c.6829del	NP_000258.1:p.Leu2277Ter
NM_001042492.2:c.6892del , LRG_214t2:c.6892del	NP_001035957.1:p.Leu2298Ter
XM_005257983.1:c.6892del	XP_005258040.1:p.Leu2298Ter
XM_005257984.1:c.6829del	XP_005258041.1:p.Leu2277Ter
XM_006721922.1:c.6922del	XP_006721985.1:p.Leu2308Ter
XM_006721923.2:c.6883del	XP_006721986.1:p.Leu2295Ter
XM_006721924.1:c.6922del	XP_006721987.1:p.Leu2308Ter
XM_006721925.1:c.6859del	XP_006721988.1:p.Leu2287Ter
XM_006721926.2:c.6922del	XP_006721989.1:p.Leu2308Ter
XM_006721927.1:c.6922del	XP_006721990.1:p.Leu2308Ter
XM_011524852.1:c.6919del	XP_011523154.1:p.Leu2307Ter
XM_011524853.1:c.6883del	XP_011523155.1:p.Leu2295Ter
XM_011524854.1:c.6883del	XP_011523156.1:p.Leu2295Ter
XM_011524855.1:c.6883del	XP_011523157.1:p.Leu2295Ter
XM_011524856.1:c.6883del	XP_011523158.1:p.Leu2295Ter
XM_011524857.1:c.6922del	XP_011523159.1:p.Leu2308Ter
NM_001042492.3:c.6892del MANE Select	NP_001035957.1:p.Leu2298Ter