Canonical Allele Identifier: CA2637081309

Gene: NF1

Linked Data

• gnomAD v4: 17-31343267-AGGCGTGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343271_31343278del , CM000679.2:g.31343271_31343278del	GRCh38
NC_000017.10:g.29670289_29670296del , CM000679.1:g.29670289_29670296del	GRCh37
NC_000017.9:g.26694415_26694422del	NCBI36
NG_009018.1:g.253295_253302del , LRG_214:g.253295_253302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7171+136_7171+143del	ENSP00000512431.1:n.7171+136_7171+143del
ENST00000684826.1:c.1753+136_1753+143del	ENSP00000509994.1:n.1753+136_1753+143del
ENST00000687027.1:c.1345+136_1345+143del	ENSP00000508715.1:n.1345+136_1345+143del
ENST00000687863.1:n.3834+136_3834+143del
ENST00000689464.1:c.128+136_128+143del
ENST00000691014.1:c.7219+136_7219+143del	ENSP00000510595.1:n.7219+136_7219+143del
ENST00000693617.1:c.1753+136_1753+143del	ENSP00000510031.1:n.1753+136_1753+143del
ENST00000358273.9:c.7189+136_7189+143del MANE Select	ENSP00000351015.4:n.7189+136_7189+143del
ENST00000356175.7:c.7126+136_7126+143del	ENSP00000348498.3:n.7126+136_7126+143del
ENST00000358273.8:c.7189+136_7189+143del	ENSP00000351015.4:n.7189+136_7189+143del
ENST00000456735.6:c.6124+136_6124+143del	ENSP00000389907.2:n.6124+136_6124+143del
ENST00000471572.6:c.572+136_572+143del
ENST00000579081.5:c.7325+136_7325+143del	ENSP00000462408.1:n.7325+136_7325+143del
ENST00000581790.5:c.332+136_332+143del
ENST00000582892.1:n.431+136_431+143del
NM_000267.3:c.7126+136_7126+143del , LRG_214t1:c.7126+136_7126+143del	NP_000258.1:n.7126+136_7126+143del
NM_001042492.2:c.7189+136_7189+143del , LRG_214t2:c.7189+136_7189+143del	NP_001035957.1:n.7189+136_7189+143del
XM_005257983.1:c.7189+136_7189+143del	XP_005258040.1:n.7189+136_7189+143del
XM_005257984.1:c.7126+136_7126+143del	XP_005258041.1:n.7126+136_7126+143del
XM_006721922.1:c.7219+136_7219+143del	XP_006721985.1:n.7219+136_7219+143del
XM_006721923.2:c.7180+136_7180+143del	XP_006721986.1:n.7180+136_7180+143del
XM_006721924.1:c.7219+136_7219+143del	XP_006721987.1:n.7219+136_7219+143del
XM_006721925.1:c.7156+136_7156+143del	XP_006721988.1:n.7156+136_7156+143del
XM_006721926.2:c.7219+136_7219+143del	XP_006721989.1:n.7219+136_7219+143del
XM_006721927.1:c.7219+136_7219+143del	XP_006721990.1:n.7219+136_7219+143del
XM_011524852.1:c.7216+136_7216+143del	XP_011523154.1:n.7216+136_7216+143del
XM_011524853.1:c.7180+136_7180+143del	XP_011523155.1:n.7180+136_7180+143del
XM_011524854.1:c.7180+136_7180+143del	XP_011523156.1:n.7180+136_7180+143del
XM_011524855.1:c.7180+136_7180+143del	XP_011523157.1:n.7180+136_7180+143del
XM_011524856.1:c.7180+136_7180+143del	XP_011523158.1:n.7180+136_7180+143del
XM_011524857.1:c.7219+136_7219+143del	XP_011523159.1:n.7219+136_7219+143del
NM_001042492.3:c.7189+136_7189+143del MANE Select	NP_001035957.1:n.7189+136_7189+143del