Canonical Allele Identifier: CA289396467

Gene: NF1

Linked Data

• ClinVar Variation Id: 1187529
• ClinVar RCV Id: RCV001547000
• dbSNP Id: rs145221709
• gnomAD v2: 17-29670288-CGTG-C
• gnomAD v3: 17-31343270-CGTG-C
• gnomAD v4: 17-31343270-CGTG-C
• MyVariant Identifiers: chr17:g.29670289_29670291del (hg19) ; chr17:g.31343271_31343273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343275_31343277del , CM000679.2:g.31343275_31343277del	GRCh38
NC_000017.10:g.29670293_29670295del , CM000679.1:g.29670293_29670295del	GRCh37
NC_000017.9:g.26694419_26694421del	NCBI36
NG_009018.1:g.253299_253301del , LRG_214:g.253299_253301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7171+140_7171+142del	ENSP00000512431.1:n.7171+140_7171+142del
ENST00000684826.1:c.1753+140_1753+142del	ENSP00000509994.1:n.1753+140_1753+142del
ENST00000687027.1:c.1345+140_1345+142del	ENSP00000508715.1:n.1345+140_1345+142del
ENST00000687863.1:n.3834+140_3834+142del
ENST00000689464.1:c.128+140_128+142del
ENST00000691014.1:c.7219+140_7219+142del	ENSP00000510595.1:n.7219+140_7219+142del
ENST00000693617.1:c.1753+140_1753+142del	ENSP00000510031.1:n.1753+140_1753+142del
ENST00000358273.9:c.7189+140_7189+142del MANE Select	ENSP00000351015.4:n.7189+140_7189+142del
ENST00000356175.7:c.7126+140_7126+142del	ENSP00000348498.3:n.7126+140_7126+142del
ENST00000358273.8:c.7189+140_7189+142del	ENSP00000351015.4:n.7189+140_7189+142del
ENST00000456735.6:c.6124+140_6124+142del	ENSP00000389907.2:n.6124+140_6124+142del
ENST00000471572.6:c.572+140_572+142del
ENST00000579081.5:c.7325+140_7325+142del	ENSP00000462408.1:n.7325+140_7325+142del
ENST00000581790.5:c.332+140_332+142del
ENST00000582892.1:n.431+140_431+142del
NM_000267.3:c.7126+140_7126+142del , LRG_214t1:c.7126+140_7126+142del	NP_000258.1:n.7126+140_7126+142del
NM_001042492.2:c.7189+140_7189+142del , LRG_214t2:c.7189+140_7189+142del	NP_001035957.1:n.7189+140_7189+142del
XM_005257983.1:c.7189+140_7189+142del	XP_005258040.1:n.7189+140_7189+142del
XM_005257984.1:c.7126+140_7126+142del	XP_005258041.1:n.7126+140_7126+142del
XM_006721922.1:c.7219+140_7219+142del	XP_006721985.1:n.7219+140_7219+142del
XM_006721923.2:c.7180+140_7180+142del	XP_006721986.1:n.7180+140_7180+142del
XM_006721924.1:c.7219+140_7219+142del	XP_006721987.1:n.7219+140_7219+142del
XM_006721925.1:c.7156+140_7156+142del	XP_006721988.1:n.7156+140_7156+142del
XM_006721926.2:c.7219+140_7219+142del	XP_006721989.1:n.7219+140_7219+142del
XM_006721927.1:c.7219+140_7219+142del	XP_006721990.1:n.7219+140_7219+142del
XM_011524852.1:c.7216+140_7216+142del	XP_011523154.1:n.7216+140_7216+142del
XM_011524853.1:c.7180+140_7180+142del	XP_011523155.1:n.7180+140_7180+142del
XM_011524854.1:c.7180+140_7180+142del	XP_011523156.1:n.7180+140_7180+142del
XM_011524855.1:c.7180+140_7180+142del	XP_011523157.1:n.7180+140_7180+142del
XM_011524856.1:c.7180+140_7180+142del	XP_011523158.1:n.7180+140_7180+142del
XM_011524857.1:c.7219+140_7219+142del	XP_011523159.1:n.7219+140_7219+142del
NM_001042492.3:c.7189+140_7189+142del MANE Select	NP_001035957.1:n.7189+140_7189+142del