Canonical Allele Identifier: CA2255577419

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261770_31261772delinsTGG , CM000679.2:g.31261770_31261772delinsTGG	GRCh38
NC_000017.10:g.29588788_29588790delinsTGG , CM000679.1:g.29588788_29588790delinsTGG	GRCh37
NC_000017.9:g.26612914_26612916delinsTGG	NCBI36
NG_009018.1:g.171794_171796delinsTGG , LRG_214:g.171794_171796delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.439_441delinsTGG	ENSP00000492721.2:p.Trp147=
ENST00000696138.1:c.4619_4621delinsTGG	ENSP00000512431.1:p.Leu1540=
ENST00000696140.1:n.743_745delinsTGG
ENST00000696141.1:c.628_630delinsTGG
ENST00000687863.1:n.1282_1284delinsTGG
ENST00000691014.1:c.4667_4669delinsTGG	ENSP00000510595.1:p.Leu1556=
ENST00000358273.9:c.4637_4639delinsTGG MANE Select	ENSP00000351015.4:p.Leu1546=
ENST00000356175.7:c.4574_4576delinsTGG	ENSP00000348498.3:p.Leu1525=
ENST00000358273.8:c.4637_4639delinsTGG	ENSP00000351015.4:p.Leu1546=
ENST00000456735.6:c.3572_3574delinsTGG	ENSP00000389907.2:p.Leu1191=
ENST00000466819.5:c.1153_1155delinsTGG
ENST00000479614.1:c.1090_1092delinsTGG
ENST00000493220.5:n.3110_3112delinsTGG
ENST00000579081.5:c.4676_4678delinsTGG	ENSP00000462408.1:p.Leu1559=
NM_000267.3:c.4574_4576delinsTGG , LRG_214t1:c.4574_4576delinsTGG	NP_000258.1:p.Leu1525=
NM_001042492.2:c.4637_4639delinsTGG , LRG_214t2:c.4637_4639delinsTGG	NP_001035957.1:p.Leu1546=
XM_005257983.1:c.4637_4639delinsTGG	XP_005258040.1:p.Leu1546=
XM_005257984.1:c.4574_4576delinsTGG	XP_005258041.1:p.Leu1525=
XM_006721922.1:c.4667_4669delinsTGG	XP_006721985.1:p.Leu1556=
XM_006721923.2:c.4628_4630delinsTGG	XP_006721986.1:p.Leu1543=
XM_006721924.1:c.4667_4669delinsTGG	XP_006721987.1:p.Leu1556=
XM_006721925.1:c.4604_4606delinsTGG	XP_006721988.1:p.Leu1535=
XM_006721926.2:c.4667_4669delinsTGG	XP_006721989.1:p.Leu1556=
XM_006721927.1:c.4667_4669delinsTGG	XP_006721990.1:p.Leu1556=
XM_006721928.2:c.4667_4669delinsTGG	XP_006721991.1:p.Leu1556=
XM_011524852.1:c.4664_4666delinsTGG	XP_011523154.1:p.Leu1555=
XM_011524853.1:c.4628_4630delinsTGG	XP_011523155.1:p.Leu1543=
XM_011524854.1:c.4628_4630delinsTGG	XP_011523156.1:p.Leu1543=
XM_011524855.1:c.4628_4630delinsTGG	XP_011523157.1:p.Leu1543=
XM_011524856.1:c.4628_4630delinsTGG	XP_011523158.1:p.Leu1543=
XM_011524857.1:c.4667_4669delinsTGG	XP_011523159.1:p.Leu1556=
NM_001042492.3:c.4637_4639delinsTGG MANE Select	NP_001035957.1:p.Leu1546=