Canonical Allele Identifier: CA2255578943

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265241_31265247delinsTGAAAAA , CM000679.2:g.31265241_31265247delinsTGAAAAA	GRCh38
NC_000017.10:g.29592259_29592265delinsTGAAAAA , CM000679.1:g.29592259_29592265delinsTGAAAAA	GRCh37
NC_000017.9:g.26616385_26616391delinsTGAAAAA	NCBI36
NG_009018.1:g.175265_175271delinsTGAAAAA , LRG_214:g.175265_175271delinsTGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.539_545delinsTGAAAAA	ENSP00000492721.2:n.539_545delinsTGAAAAA
ENST00000696138.1:c.4719_4725delinsTGAAAAA	ENSP00000512431.1:p.His1573=
ENST00000696140.1:n.843_849delinsTGAAAAA
ENST00000696141.1:c.728_734delinsTGAAAAA
ENST00000687863.1:n.1382_1388delinsTGAAAAA
ENST00000691014.1:c.4767_4773delinsTGAAAAA	ENSP00000510595.1:p.His1589=
ENST00000358273.9:c.4737_4743delinsTGAAAAA MANE Select	ENSP00000351015.4:p.His1579=
ENST00000356175.7:c.4674_4680delinsTGAAAAA	ENSP00000348498.3:p.His1558=
ENST00000358273.8:c.4737_4743delinsTGAAAAA	ENSP00000351015.4:p.His1579=
ENST00000456735.6:c.3672_3678delinsTGAAAAA	ENSP00000389907.2:p.His1224=
ENST00000493220.5:n.3210_3216delinsTGAAAAA
ENST00000579081.5:c.4776_4782delinsTGAAAAA	ENSP00000462408.1:p.His1592=
NM_000267.3:c.4674_4680delinsTGAAAAA , LRG_214t1:c.4674_4680delinsTGAAAAA	NP_000258.1:p.His1558=
NM_001042492.2:c.4737_4743delinsTGAAAAA , LRG_214t2:c.4737_4743delinsTGAAAAA	NP_001035957.1:p.His1579=
XM_005257983.1:c.4737_4743delinsTGAAAAA	XP_005258040.1:p.His1579=
XM_005257984.1:c.4674_4680delinsTGAAAAA	XP_005258041.1:p.His1558=
XM_006721922.1:c.4767_4773delinsTGAAAAA	XP_006721985.1:p.His1589=
XM_006721923.2:c.4728_4734delinsTGAAAAA	XP_006721986.1:p.His1576=
XM_006721924.1:c.4767_4773delinsTGAAAAA	XP_006721987.1:p.His1589=
XM_006721925.1:c.4704_4710delinsTGAAAAA	XP_006721988.1:p.His1568=
XM_006721926.2:c.4767_4773delinsTGAAAAA	XP_006721989.1:p.His1589=
XM_006721927.1:c.4767_4773delinsTGAAAAA	XP_006721990.1:p.His1589=
XM_006721928.2:c.4767_4773delinsTGAAAAA	XP_006721991.1:p.His1589=
XM_011524852.1:c.4764_4770delinsTGAAAAA	XP_011523154.1:p.His1588=
XM_011524853.1:c.4728_4734delinsTGAAAAA	XP_011523155.1:p.His1576=
XM_011524854.1:c.4728_4734delinsTGAAAAA	XP_011523156.1:p.His1576=
XM_011524855.1:c.4728_4734delinsTGAAAAA	XP_011523157.1:p.His1576=
XM_011524856.1:c.4728_4734delinsTGAAAAA	XP_011523158.1:p.His1576=
XM_011524857.1:c.4767_4773delinsTGAAAAA	XP_011523159.1:p.His1589=
NM_001042492.3:c.4737_4743delinsTGAAAAA MANE Select	NP_001035957.1:p.His1579=