Canonical Allele Identifier: CA2637081318

Gene: NF1

Linked Data

• gnomAD v4: 17-31343274-G-GCCACCACGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343274_31343275insCCACCACGCC , CM000679.2:g.31343274_31343275insCCACCACGCC	GRCh38
NC_000017.10:g.29670292_29670293insCCACCACGCC , CM000679.1:g.29670292_29670293insCCACCACGCC	GRCh37
NC_000017.9:g.26694418_26694419insCCACCACGCC	NCBI36
NG_009018.1:g.253298_253299insCCACCACGCC , LRG_214:g.253298_253299insCCACCACGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7171+139_7171+140insCCACCACGCC	ENSP00000512431.1:n.7171+139_7171+140insCCACCACGCC
ENST00000684826.1:c.1753+139_1753+140insCCACCACGCC	ENSP00000509994.1:n.1753+139_1753+140insCCACCACGCC
ENST00000687027.1:c.1345+139_1345+140insCCACCACGCC	ENSP00000508715.1:n.1345+139_1345+140insCCACCACGCC
ENST00000687863.1:n.3834+139_3834+140insCCACCACGCC
ENST00000689464.1:c.128+139_128+140insCCACCACGCC
ENST00000691014.1:c.7219+139_7219+140insCCACCACGCC	ENSP00000510595.1:n.7219+139_7219+140insCCACCACGCC
ENST00000693617.1:c.1753+139_1753+140insCCACCACGCC	ENSP00000510031.1:n.1753+139_1753+140insCCACCACGCC
ENST00000358273.9:c.7189+139_7189+140insCCACCACGCC MANE Select	ENSP00000351015.4:n.7189+139_7189+140insCCACCACGCC
ENST00000356175.7:c.7126+139_7126+140insCCACCACGCC	ENSP00000348498.3:n.7126+139_7126+140insCCACCACGCC
ENST00000358273.8:c.7189+139_7189+140insCCACCACGCC	ENSP00000351015.4:n.7189+139_7189+140insCCACCACGCC
ENST00000456735.6:c.6124+139_6124+140insCCACCACGCC	ENSP00000389907.2:n.6124+139_6124+140insCCACCACGCC
ENST00000471572.6:c.572+139_572+140insCCACCACGCC
ENST00000579081.5:c.7325+139_7325+140insCCACCACGCC	ENSP00000462408.1:n.7325+139_7325+140insCCACCACGCC
ENST00000581790.5:c.332+139_332+140insCCACCACGCC
ENST00000582892.1:n.431+139_431+140insCCACCACGCC
NM_000267.3:c.7126+139_7126+140insCCACCACGCC , LRG_214t1:c.7126+139_7126+140insCCACCACGCC	NP_000258.1:n.7126+139_7126+140insCCACCACGCC
NM_001042492.2:c.7189+139_7189+140insCCACCACGCC , LRG_214t2:c.7189+139_7189+140insCCACCACGCC	NP_001035957.1:n.7189+139_7189+140insCCACCACGCC
XM_005257983.1:c.7189+139_7189+140insCCACCACGCC	XP_005258040.1:n.7189+139_7189+140insCCACCACGCC
XM_005257984.1:c.7126+139_7126+140insCCACCACGCC	XP_005258041.1:n.7126+139_7126+140insCCACCACGCC
XM_006721922.1:c.7219+139_7219+140insCCACCACGCC	XP_006721985.1:n.7219+139_7219+140insCCACCACGCC
XM_006721923.2:c.7180+139_7180+140insCCACCACGCC	XP_006721986.1:n.7180+139_7180+140insCCACCACGCC
XM_006721924.1:c.7219+139_7219+140insCCACCACGCC	XP_006721987.1:n.7219+139_7219+140insCCACCACGCC
XM_006721925.1:c.7156+139_7156+140insCCACCACGCC	XP_006721988.1:n.7156+139_7156+140insCCACCACGCC
XM_006721926.2:c.7219+139_7219+140insCCACCACGCC	XP_006721989.1:n.7219+139_7219+140insCCACCACGCC
XM_006721927.1:c.7219+139_7219+140insCCACCACGCC	XP_006721990.1:n.7219+139_7219+140insCCACCACGCC
XM_011524852.1:c.7216+139_7216+140insCCACCACGCC	XP_011523154.1:n.7216+139_7216+140insCCACCACGCC
XM_011524853.1:c.7180+139_7180+140insCCACCACGCC	XP_011523155.1:n.7180+139_7180+140insCCACCACGCC
XM_011524854.1:c.7180+139_7180+140insCCACCACGCC	XP_011523156.1:n.7180+139_7180+140insCCACCACGCC
XM_011524855.1:c.7180+139_7180+140insCCACCACGCC	XP_011523157.1:n.7180+139_7180+140insCCACCACGCC
XM_011524856.1:c.7180+139_7180+140insCCACCACGCC	XP_011523158.1:n.7180+139_7180+140insCCACCACGCC
XM_011524857.1:c.7219+139_7219+140insCCACCACGCC	XP_011523159.1:n.7219+139_7219+140insCCACCACGCC
NM_001042492.3:c.7189+139_7189+140insCCACCACGCC MANE Select	NP_001035957.1:n.7189+139_7189+140insCCACCACGCC