Canonical Allele Identifier: CA8487511

Gene: NF1

Linked Data

• dbSNP Id: rs757281407
• ExAC: 17:29670174 A / ATATT
• gnomAD v2: 17-29670174-A-ATATT
• gnomAD v4: 17-31343156-A-ATATT
• MyVariant Identifiers: chr17:g.29670174_29670175insTATT (hg19) ; chr17:g.31343156_31343157insTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343158_31343161dup , CM000679.2:g.31343158_31343161dup	GRCh38
NC_000017.10:g.29670176_29670179dup , CM000679.1:g.29670176_29670179dup	GRCh37
NC_000017.9:g.26694302_26694305dup	NCBI36
NG_009018.1:g.253182_253185dup , LRG_214:g.253182_253185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7171+23_7171+26dup	ENSP00000512431.1:n.7171+23_7171+26dup
ENST00000684826.1:c.1753+23_1753+26dup	ENSP00000509994.1:n.1753+23_1753+26dup
ENST00000687027.1:c.1345+23_1345+26dup	ENSP00000508715.1:n.1345+23_1345+26dup
ENST00000687863.1:n.3834+23_3834+26dup
ENST00000689464.1:c.128+23_128+26dup
ENST00000691014.1:c.7219+23_7219+26dup	ENSP00000510595.1:n.7219+23_7219+26dup
ENST00000693617.1:c.1753+23_1753+26dup	ENSP00000510031.1:n.1753+23_1753+26dup
ENST00000358273.9:c.7189+23_7189+26dup MANE Select	ENSP00000351015.4:n.7189+23_7189+26dup
ENST00000356175.7:c.7126+23_7126+26dup	ENSP00000348498.3:n.7126+23_7126+26dup
ENST00000358273.8:c.7189+23_7189+26dup	ENSP00000351015.4:n.7189+23_7189+26dup
ENST00000456735.6:c.6124+23_6124+26dup	ENSP00000389907.2:n.6124+23_6124+26dup
ENST00000471572.6:c.572+23_572+26dup
ENST00000579081.5:c.7325+23_7325+26dup	ENSP00000462408.1:n.7325+23_7325+26dup
ENST00000581790.5:c.332+23_332+26dup
ENST00000582892.1:n.431+23_431+26dup
NM_000267.3:c.7126+23_7126+26dup , LRG_214t1:c.7126+23_7126+26dup	NP_000258.1:n.7126+23_7126+26dup
NM_001042492.2:c.7189+23_7189+26dup , LRG_214t2:c.7189+23_7189+26dup	NP_001035957.1:n.7189+23_7189+26dup
XM_005257983.1:c.7189+23_7189+26dup	XP_005258040.1:n.7189+23_7189+26dup
XM_005257984.1:c.7126+23_7126+26dup	XP_005258041.1:n.7126+23_7126+26dup
XM_006721922.1:c.7219+23_7219+26dup	XP_006721985.1:n.7219+23_7219+26dup
XM_006721923.2:c.7180+23_7180+26dup	XP_006721986.1:n.7180+23_7180+26dup
XM_006721924.1:c.7219+23_7219+26dup	XP_006721987.1:n.7219+23_7219+26dup
XM_006721925.1:c.7156+23_7156+26dup	XP_006721988.1:n.7156+23_7156+26dup
XM_006721926.2:c.7219+23_7219+26dup	XP_006721989.1:n.7219+23_7219+26dup
XM_006721927.1:c.7219+23_7219+26dup	XP_006721990.1:n.7219+23_7219+26dup
XM_011524852.1:c.7216+23_7216+26dup	XP_011523154.1:n.7216+23_7216+26dup
XM_011524853.1:c.7180+23_7180+26dup	XP_011523155.1:n.7180+23_7180+26dup
XM_011524854.1:c.7180+23_7180+26dup	XP_011523156.1:n.7180+23_7180+26dup
XM_011524855.1:c.7180+23_7180+26dup	XP_011523157.1:n.7180+23_7180+26dup
XM_011524856.1:c.7180+23_7180+26dup	XP_011523158.1:n.7180+23_7180+26dup
XM_011524857.1:c.7219+23_7219+26dup	XP_011523159.1:n.7219+23_7219+26dup
NM_001042492.3:c.7189+23_7189+26dup MANE Select	NP_001035957.1:n.7189+23_7189+26dup