Canonical Allele Identifier: CA2637081317

Gene: NF1

Linked Data

• gnomAD v4: 17-31343273-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343273_31343274insA , CM000679.2:g.31343273_31343274insA	GRCh38
NC_000017.10:g.29670291_29670292insA , CM000679.1:g.29670291_29670292insA	GRCh37
NC_000017.9:g.26694417_26694418insA	NCBI36
NG_009018.1:g.253297_253298insA , LRG_214:g.253297_253298insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7171+138_7171+139insA	ENSP00000512431.1:n.7171+138_7171+139insA
ENST00000684826.1:c.1753+138_1753+139insA	ENSP00000509994.1:n.1753+138_1753+139insA
ENST00000687027.1:c.1345+138_1345+139insA	ENSP00000508715.1:n.1345+138_1345+139insA
ENST00000687863.1:n.3834+138_3834+139insA
ENST00000689464.1:c.128+138_128+139insA
ENST00000691014.1:c.7219+138_7219+139insA	ENSP00000510595.1:n.7219+138_7219+139insA
ENST00000693617.1:c.1753+138_1753+139insA	ENSP00000510031.1:n.1753+138_1753+139insA
ENST00000358273.9:c.7189+138_7189+139insA MANE Select	ENSP00000351015.4:n.7189+138_7189+139insA
ENST00000356175.7:c.7126+138_7126+139insA	ENSP00000348498.3:n.7126+138_7126+139insA
ENST00000358273.8:c.7189+138_7189+139insA	ENSP00000351015.4:n.7189+138_7189+139insA
ENST00000456735.6:c.6124+138_6124+139insA	ENSP00000389907.2:n.6124+138_6124+139insA
ENST00000471572.6:c.572+138_572+139insA
ENST00000579081.5:c.7325+138_7325+139insA	ENSP00000462408.1:n.7325+138_7325+139insA
ENST00000581790.5:c.332+138_332+139insA
ENST00000582892.1:n.431+138_431+139insA
NM_000267.3:c.7126+138_7126+139insA , LRG_214t1:c.7126+138_7126+139insA	NP_000258.1:n.7126+138_7126+139insA
NM_001042492.2:c.7189+138_7189+139insA , LRG_214t2:c.7189+138_7189+139insA	NP_001035957.1:n.7189+138_7189+139insA
XM_005257983.1:c.7189+138_7189+139insA	XP_005258040.1:n.7189+138_7189+139insA
XM_005257984.1:c.7126+138_7126+139insA	XP_005258041.1:n.7126+138_7126+139insA
XM_006721922.1:c.7219+138_7219+139insA	XP_006721985.1:n.7219+138_7219+139insA
XM_006721923.2:c.7180+138_7180+139insA	XP_006721986.1:n.7180+138_7180+139insA
XM_006721924.1:c.7219+138_7219+139insA	XP_006721987.1:n.7219+138_7219+139insA
XM_006721925.1:c.7156+138_7156+139insA	XP_006721988.1:n.7156+138_7156+139insA
XM_006721926.2:c.7219+138_7219+139insA	XP_006721989.1:n.7219+138_7219+139insA
XM_006721927.1:c.7219+138_7219+139insA	XP_006721990.1:n.7219+138_7219+139insA
XM_011524852.1:c.7216+138_7216+139insA	XP_011523154.1:n.7216+138_7216+139insA
XM_011524853.1:c.7180+138_7180+139insA	XP_011523155.1:n.7180+138_7180+139insA
XM_011524854.1:c.7180+138_7180+139insA	XP_011523156.1:n.7180+138_7180+139insA
XM_011524855.1:c.7180+138_7180+139insA	XP_011523157.1:n.7180+138_7180+139insA
XM_011524856.1:c.7180+138_7180+139insA	XP_011523158.1:n.7180+138_7180+139insA
XM_011524857.1:c.7219+138_7219+139insA	XP_011523159.1:n.7219+138_7219+139insA
NM_001042492.3:c.7189+138_7189+139insA MANE Select	NP_001035957.1:n.7189+138_7189+139insA