Canonical Allele Identifier: CA499234374

Gene: NF1

Linked Data

• ClinVar Variation Id: 826662
• ClinVar RCV Id: RCV002382254
• dbSNP Id: rs1597846091
• COSMIC: COSM35348 ; COSM2150452
• MyVariant Identifiers: chr17:g.29665808del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338790del , CM000679.2:g.31338790del	GRCh38
NC_000017.10:g.29665808del , CM000679.1:g.29665808del	GRCh37
NC_000017.9:g.26689934del	NCBI36
NG_009018.1:g.248814del , LRG_214:g.248814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6888del	ENSP00000512431.1:p.Gln2296HisfsTer17
ENST00000684826.1:c.1470del	ENSP00000509994.1:p.Gln490HisfsTer17
ENST00000684998.1:n.2728del
ENST00000687027.1:c.1062del	ENSP00000508715.1:p.Gln354HisfsTer17
ENST00000687863.1:n.3551del
ENST00000691014.1:c.6936del	ENSP00000510595.1:p.Gln2312HisfsTer17
ENST00000693617.1:c.1470del	ENSP00000510031.1:p.Gln490HisfsTer17
ENST00000358273.9:c.6906del MANE Select	ENSP00000351015.4:p.Gln2302HisfsTer17
ENST00000356175.7:c.6843del	ENSP00000348498.3:p.Gln2281HisfsTer17
ENST00000358273.8:c.6906del	ENSP00000351015.4:p.Gln2302HisfsTer17
ENST00000456735.6:c.5841del	ENSP00000389907.2:p.Gln1947HisfsTer17
ENST00000471572.6:c.289del
ENST00000579081.5:c.7042del	ENSP00000462408.1:n.7042del
ENST00000581790.5:c.64+910del
ENST00000584328.1:n.320del
NM_000267.3:c.6843del , LRG_214t1:c.6843del	NP_000258.1:p.Gln2281HisfsTer17
NM_001042492.2:c.6906del , LRG_214t2:c.6906del	NP_001035957.1:p.Gln2302HisfsTer17
XM_005257983.1:c.6906del	XP_005258040.1:p.Gln2302HisfsTer17
XM_005257984.1:c.6843del	XP_005258041.1:p.Gln2281HisfsTer17
XM_006721922.1:c.6936del	XP_006721985.1:p.Gln2312HisfsTer17
XM_006721923.2:c.6897del	XP_006721986.1:p.Gln2299HisfsTer17
XM_006721924.1:c.6936del	XP_006721987.1:p.Gln2312HisfsTer17
XM_006721925.1:c.6873del	XP_006721988.1:p.Gln2291HisfsTer17
XM_006721926.2:c.6936del	XP_006721989.1:p.Gln2312HisfsTer17
XM_006721927.1:c.6936del	XP_006721990.1:p.Gln2312HisfsTer17
XM_011524852.1:c.6933del	XP_011523154.1:p.Gln2311HisfsTer17
XM_011524853.1:c.6897del	XP_011523155.1:p.Gln2299HisfsTer17
XM_011524854.1:c.6897del	XP_011523156.1:p.Gln2299HisfsTer17
XM_011524855.1:c.6897del	XP_011523157.1:p.Gln2299HisfsTer17
XM_011524856.1:c.6897del	XP_011523158.1:p.Gln2299HisfsTer17
XM_011524857.1:c.6936del	XP_011523159.1:p.Gln2312HisfsTer17
NM_001042492.3:c.6906del MANE Select	NP_001035957.1:p.Gln2302HisfsTer17