Canonical Allele Identifier: CA1139665458

Gene: NF1

Linked Data

• ClinVar Variation Id: 965365
• ClinVar RCV Id: RCV001239799
• dbSNP Id: rs2069742393

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338707_31338711delinsTGG , CM000679.2:g.31338707_31338711delinsTGG	GRCh38
NC_000017.10:g.29665725_29665729delinsTGG , CM000679.1:g.29665725_29665729delinsTGG	GRCh37
NC_000017.9:g.26689851_26689855delinsTGG	NCBI36
NG_009018.1:g.248731_248735delinsTGG , LRG_214:g.248731_248735delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6805_6809delinsTGG	ENSP00000512431.1:p.Leu2269TrpfsTer8
ENST00000684826.1:c.1387_1391delinsTGG	ENSP00000509994.1:p.Leu463TrpfsTer8
ENST00000684998.1:n.2645_2649delinsTGG
ENST00000687027.1:c.979_983delinsTGG	ENSP00000508715.1:p.Leu327TrpfsTer8
ENST00000687863.1:n.3468_3472delinsTGG
ENST00000691014.1:c.6853_6857delinsTGG	ENSP00000510595.1:p.Leu2285TrpfsTer8
ENST00000693617.1:c.1387_1391delinsTGG	ENSP00000510031.1:p.Leu463TrpfsTer8
ENST00000358273.9:c.6823_6827delinsTGG MANE Select	ENSP00000351015.4:p.Leu2275TrpfsTer8
ENST00000356175.7:c.6760_6764delinsTGG	ENSP00000348498.3:p.Leu2254TrpfsTer8
ENST00000358273.8:c.6823_6827delinsTGG	ENSP00000351015.4:p.Leu2275TrpfsTer8
ENST00000456735.6:c.5758_5762delinsTGG	ENSP00000389907.2:p.Leu1920TrpfsTer8
ENST00000471572.6:c.206_210delinsTGG
ENST00000579081.5:c.6959_6963delinsTGG	ENSP00000462408.1:n.6959_6963delinsTGG
ENST00000581790.5:c.64+827_64+831delinsTGG
ENST00000584328.1:n.237_241delinsTGG
NM_000267.3:c.6760_6764delinsTGG , LRG_214t1:c.6760_6764delinsTGG	NP_000258.1:p.Leu2254TrpfsTer8
NM_001042492.2:c.6823_6827delinsTGG , LRG_214t2:c.6823_6827delinsTGG	NP_001035957.1:p.Leu2275TrpfsTer8
XM_005257983.1:c.6823_6827delinsTGG	XP_005258040.1:p.Leu2275TrpfsTer8
XM_005257984.1:c.6760_6764delinsTGG	XP_005258041.1:p.Leu2254TrpfsTer8
XM_006721922.1:c.6853_6857delinsTGG	XP_006721985.1:p.Leu2285TrpfsTer8
XM_006721923.2:c.6814_6818delinsTGG	XP_006721986.1:p.Leu2272TrpfsTer8
XM_006721924.1:c.6853_6857delinsTGG	XP_006721987.1:p.Leu2285TrpfsTer8
XM_006721925.1:c.6790_6794delinsTGG	XP_006721988.1:p.Leu2264TrpfsTer8
XM_006721926.2:c.6853_6857delinsTGG	XP_006721989.1:p.Leu2285TrpfsTer8
XM_006721927.1:c.6853_6857delinsTGG	XP_006721990.1:p.Leu2285TrpfsTer8
XM_011524852.1:c.6850_6854delinsTGG	XP_011523154.1:p.Leu2284TrpfsTer8
XM_011524853.1:c.6814_6818delinsTGG	XP_011523155.1:p.Leu2272TrpfsTer8
XM_011524854.1:c.6814_6818delinsTGG	XP_011523156.1:p.Leu2272TrpfsTer8
XM_011524855.1:c.6814_6818delinsTGG	XP_011523157.1:p.Leu2272TrpfsTer8
XM_011524856.1:c.6814_6818delinsTGG	XP_011523158.1:p.Leu2272TrpfsTer8
XM_011524857.1:c.6853_6857delinsTGG	XP_011523159.1:p.Leu2285TrpfsTer8
NM_001042492.3:c.6823_6827delinsTGG MANE Select	NP_001035957.1:p.Leu2275TrpfsTer8