Canonical Allele Identifier: CA658761001

Gene: NF1

Linked Data

• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338796_31338797insG , CM000679.2:g.31338796_31338797insG	GRCh38
NC_000017.10:g.29665814_29665815insG , CM000679.1:g.29665814_29665815insG	GRCh37
NC_000017.9:g.26689940_26689941insG	NCBI36
NG_009018.1:g.248820_248821insG , LRG_214:g.248820_248821insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6894_6895insG	ENSP00000512431.1:p.Leu2299AlafsTer2
ENST00000684826.1:c.1476_1477insG	ENSP00000509994.1:p.Leu493AlafsTer2
ENST00000684998.1:n.2734_2735insG
ENST00000687027.1:c.1068_1069insG	ENSP00000508715.1:p.Leu357AlafsTer2
ENST00000687863.1:n.3557_3558insG
ENST00000691014.1:c.6942_6943insG	ENSP00000510595.1:p.Leu2315AlafsTer2
ENST00000693617.1:c.1476_1477insG	ENSP00000510031.1:p.Leu493AlafsTer2
ENST00000358273.9:c.6912_6913insG MANE Select	ENSP00000351015.4:p.Leu2305AlafsTer2
ENST00000356175.7:c.6849_6850insG	ENSP00000348498.3:p.Leu2284AlafsTer2
ENST00000358273.8:c.6912_6913insG	ENSP00000351015.4:p.Leu2305AlafsTer2
ENST00000456735.6:c.5847_5848insG	ENSP00000389907.2:p.Leu1950AlafsTer2
ENST00000471572.6:c.295_296insG
ENST00000579081.5:c.7048_7049insG	ENSP00000462408.1:n.7048_7049insG
ENST00000581790.5:c.64+916_64+917insG
ENST00000584328.1:n.326_327insG
NM_000267.3:c.6849_6850insG , LRG_214t1:c.6849_6850insG	NP_000258.1:p.Leu2284AlafsTer2
NM_001042492.2:c.6912_6913insG , LRG_214t2:c.6912_6913insG	NP_001035957.1:p.Leu2305AlafsTer2
XM_005257983.1:c.6912_6913insG	XP_005258040.1:p.Leu2305AlafsTer2
XM_005257984.1:c.6849_6850insG	XP_005258041.1:p.Leu2284AlafsTer2
XM_006721922.1:c.6942_6943insG	XP_006721985.1:p.Leu2315AlafsTer2
XM_006721923.2:c.6903_6904insG	XP_006721986.1:p.Leu2302AlafsTer2
XM_006721924.1:c.6942_6943insG	XP_006721987.1:p.Leu2315AlafsTer2
XM_006721925.1:c.6879_6880insG	XP_006721988.1:p.Leu2294AlafsTer2
XM_006721926.2:c.6942_6943insG	XP_006721989.1:p.Leu2315AlafsTer2
XM_006721927.1:c.6942_6943insG	XP_006721990.1:p.Leu2315AlafsTer2
XM_011524852.1:c.6939_6940insG	XP_011523154.1:p.Leu2314AlafsTer2
XM_011524853.1:c.6903_6904insG	XP_011523155.1:p.Leu2302AlafsTer2
XM_011524854.1:c.6903_6904insG	XP_011523156.1:p.Leu2302AlafsTer2
XM_011524855.1:c.6903_6904insG	XP_011523157.1:p.Leu2302AlafsTer2
XM_011524856.1:c.6903_6904insG	XP_011523158.1:p.Leu2302AlafsTer2
XM_011524857.1:c.6942_6943insG	XP_011523159.1:p.Leu2315AlafsTer2
NM_001042492.3:c.6912_6913insG MANE Select	NP_001035957.1:p.Leu2305AlafsTer2