Canonical Allele Identifier: CA2695225183

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338741dup , CM000679.2:g.31338741dup	GRCh38
NC_000017.10:g.29665759dup , CM000679.1:g.29665759dup	GRCh37
NC_000017.9:g.26689885dup	NCBI36
NG_009018.1:g.248765dup , LRG_214:g.248765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6839dup	ENSP00000512431.1:p.Asn2280LysfsTer21
ENST00000684826.1:c.1421dup	ENSP00000509994.1:p.Asn474LysfsTer21
ENST00000684998.1:n.2679dup
ENST00000687027.1:c.1013dup	ENSP00000508715.1:p.Asn338LysfsTer21
ENST00000687863.1:n.3502dup
ENST00000691014.1:c.6887dup	ENSP00000510595.1:p.Asn2296LysfsTer21
ENST00000693617.1:c.1421dup	ENSP00000510031.1:p.Asn474LysfsTer21
ENST00000358273.9:c.6857dup MANE Select	ENSP00000351015.4:p.Asn2286LysfsTer21
ENST00000356175.7:c.6794dup	ENSP00000348498.3:p.Asn2265LysfsTer21
ENST00000358273.8:c.6857dup	ENSP00000351015.4:p.Asn2286LysfsTer21
ENST00000456735.6:c.5792dup	ENSP00000389907.2:p.Asn1931LysfsTer21
ENST00000471572.6:c.240dup
ENST00000579081.5:c.6993dup	ENSP00000462408.1:n.6993dup
ENST00000581790.5:c.64+861dup
ENST00000584328.1:n.271dup
NM_000267.3:c.6794dup , LRG_214t1:c.6794dup	NP_000258.1:p.Asn2265LysfsTer21
NM_001042492.2:c.6857dup , LRG_214t2:c.6857dup	NP_001035957.1:p.Asn2286LysfsTer21
XM_005257983.1:c.6857dup	XP_005258040.1:p.Asn2286LysfsTer21
XM_005257984.1:c.6794dup	XP_005258041.1:p.Asn2265LysfsTer21
XM_006721922.1:c.6887dup	XP_006721985.1:p.Asn2296LysfsTer21
XM_006721923.2:c.6848dup	XP_006721986.1:p.Asn2283LysfsTer21
XM_006721924.1:c.6887dup	XP_006721987.1:p.Asn2296LysfsTer21
XM_006721925.1:c.6824dup	XP_006721988.1:p.Asn2275LysfsTer21
XM_006721926.2:c.6887dup	XP_006721989.1:p.Asn2296LysfsTer21
XM_006721927.1:c.6887dup	XP_006721990.1:p.Asn2296LysfsTer21
XM_011524852.1:c.6884dup	XP_011523154.1:p.Asn2295LysfsTer21
XM_011524853.1:c.6848dup	XP_011523155.1:p.Asn2283LysfsTer21
XM_011524854.1:c.6848dup	XP_011523156.1:p.Asn2283LysfsTer21
XM_011524855.1:c.6848dup	XP_011523157.1:p.Asn2283LysfsTer21
XM_011524856.1:c.6848dup	XP_011523158.1:p.Asn2283LysfsTer21
XM_011524857.1:c.6887dup	XP_011523159.1:p.Asn2296LysfsTer21
NM_001042492.3:c.6857dup MANE Select	NP_001035957.1:p.Asn2286LysfsTer21