Canonical Allele Identifier: CA915949855

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31230915_31230916insTA , CM000679.2:g.31230915_31230916insTA	GRCh38
NC_000017.10:g.29557933_29557934insTA , CM000679.1:g.29557933_29557934insTA	GRCh37
NC_000017.9:g.26582059_26582060insTA	NCBI36
NG_009018.1:g.140939_140940insTA , LRG_214:g.140939_140940insTA

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.3187_3188insTA MANE Select	NP_001035957.1:p.Cys1063LeufsTer15
ENST00000358273.9:c.3187_3188insTA MANE Select	ENSP00000351015.4:p.Cys1063LeufsTer15
NM_000267.3:c.3187_3188insTA , LRG_214t1:c.3187_3188insTA	NP_000258.1:p.Cys1063LeufsTer15
NM_001042492.2:c.3187_3188insTA , LRG_214t2:c.3187_3188insTA	NP_001035957.1:p.Cys1063LeufsTer15
ENST00000356175.7:c.3187_3188insTA	ENSP00000348498.3:p.Cys1063LeufsTer15
ENST00000358273.8:c.3187_3188insTA	ENSP00000351015.4:p.Cys1063LeufsTer15
ENST00000456735.6:c.2185_2186insTA	ENSP00000389907.2:p.Cys729LeufsTer15
ENST00000493220.5:n.1723_1724insTA
ENST00000495910.6:c.2962_2963insTA
ENST00000579081.5:c.3289_3290insTA	ENSP00000462408.1:p.Cys1097LeufsTer15
ENST00000691014.1:c.3217_3218insTA	ENSP00000510595.1:p.Cys1073LeufsTer15
ENST00000696138.1:c.3232_3233insTA	ENSP00000512431.1:p.Cys1078LeufsTer15
ENST00000696139.1:c.532_533insTA	ENSP00000512432.1:p.Cys178LeufsTer15
XM_005257983.1:c.3187_3188insTA	XP_005258040.1:p.Cys1063LeufsTer15
XM_005257984.1:c.3187_3188insTA	XP_005258041.1:p.Cys1063LeufsTer15
XM_006721922.1:c.3217_3218insTA	XP_006721985.1:p.Cys1073LeufsTer15
XM_006721923.2:c.3178_3179insTA	XP_006721986.1:p.Cys1060LeufsTer15
XM_006721924.1:c.3217_3218insTA	XP_006721987.1:p.Cys1073LeufsTer15
XM_006721925.1:c.3217_3218insTA	XP_006721988.1:p.Cys1073LeufsTer15
XM_006721926.2:c.3217_3218insTA	XP_006721989.1:p.Cys1073LeufsTer15
XM_006721927.1:c.3217_3218insTA	XP_006721990.1:p.Cys1073LeufsTer15
XM_006721928.2:c.3217_3218insTA	XP_006721991.1:p.Cys1073LeufsTer15
XM_011524852.1:c.3214_3215insTA	XP_011523154.1:p.Cys1072LeufsTer15
XM_011524853.1:c.3178_3179insTA	XP_011523155.1:p.Cys1060LeufsTer15
XM_011524854.1:c.3178_3179insTA	XP_011523156.1:p.Cys1060LeufsTer15
XM_011524855.1:c.3178_3179insTA	XP_011523157.1:p.Cys1060LeufsTer15
XM_011524856.1:c.3178_3179insTA	XP_011523158.1:p.Cys1060LeufsTer15
XM_011524857.1:c.3217_3218insTA	XP_011523159.1:p.Cys1073LeufsTer15