Canonical Allele Identifier: CA2255559605

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31222002_31222006delinsTGTAG , CM000679.2:g.31222002_31222006delinsTGTAG	GRCh38
NC_000017.10:g.29549020_29549024delinsTGTAG , CM000679.1:g.29549020_29549024delinsTGTAG	GRCh37
NC_000017.9:g.26573146_26573150delinsTGTAG	NCBI36
NG_009018.1:g.132026_132030delinsTGTAG , LRG_214:g.132026_132030delinsTGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+73_1766+77delinsTGTAG	ENSP00000512431.1:n.1766+73_1766+77delinsTGTAG
ENST00000686189.1:c.1239_1243delinsTGTAG	ENSP00000509682.1:n.1239_1243delinsTGTAG
ENST00000691014.1:c.1751+73_1751+77delinsTGTAG	ENSP00000510595.1:n.1751+73_1751+77delinsTGTAG
ENST00000358273.9:c.1721+73_1721+77delinsTGTAG MANE Select	ENSP00000351015.4:n.1721+73_1721+77delinsTGTAG
ENST00000356175.7:c.1721+73_1721+77delinsTGTAG	ENSP00000348498.3:n.1721+73_1721+77delinsTGTAG
ENST00000358273.8:c.1721+73_1721+77delinsTGTAG	ENSP00000351015.4:n.1721+73_1721+77delinsTGTAG
ENST00000431387.8:c.*12_*16delinsTGTAG	ENSP00000412921.4:n.*12_*16delinsTGTAG
ENST00000456735.6:c.719+73_719+77delinsTGTAG	ENSP00000389907.2:n.719+73_719+77delinsTGTAG
ENST00000495910.6:c.1496+73_1496+77delinsTGTAG
ENST00000579081.5:c.1823+73_1823+77delinsTGTAG	ENSP00000462408.1:n.1823+73_1823+77delinsTGTAG
NM_000267.3:c.1721+73_1721+77delinsTGTAG , LRG_214t1:c.1721+73_1721+77delinsTGTAG	NP_000258.1:n.1721+73_1721+77delinsTGTAG
NM_001042492.2:c.1721+73_1721+77delinsTGTAG , LRG_214t2:c.1721+73_1721+77delinsTGTAG	NP_001035957.1:n.1721+73_1721+77delinsTGTAG
NM_001128147.2:c.*12_*16delinsTGTAG	NP_001121619.1:n.*12_*16delinsTGTAG
XM_005257983.1:c.1721+73_1721+77delinsTGTAG	XP_005258040.1:n.1721+73_1721+77delinsTGTAG
XM_005257984.1:c.1721+73_1721+77delinsTGTAG	XP_005258041.1:n.1721+73_1721+77delinsTGTAG
XM_006721922.1:c.1751+73_1751+77delinsTGTAG	XP_006721985.1:n.1751+73_1751+77delinsTGTAG
XM_006721923.2:c.1712+73_1712+77delinsTGTAG	XP_006721986.1:n.1712+73_1712+77delinsTGTAG
XM_006721924.1:c.1751+73_1751+77delinsTGTAG	XP_006721987.1:n.1751+73_1751+77delinsTGTAG
XM_006721925.1:c.1751+73_1751+77delinsTGTAG	XP_006721988.1:n.1751+73_1751+77delinsTGTAG
XM_006721926.2:c.1751+73_1751+77delinsTGTAG	XP_006721989.1:n.1751+73_1751+77delinsTGTAG
XM_006721927.1:c.1751+73_1751+77delinsTGTAG	XP_006721990.1:n.1751+73_1751+77delinsTGTAG
XM_006721928.2:c.1751+73_1751+77delinsTGTAG	XP_006721991.1:n.1751+73_1751+77delinsTGTAG
XM_011524852.1:c.1751+73_1751+77delinsTGTAG	XP_011523154.1:n.1751+73_1751+77delinsTGTAG
XM_011524853.1:c.1712+73_1712+77delinsTGTAG	XP_011523155.1:n.1712+73_1712+77delinsTGTAG
XM_011524854.1:c.1712+73_1712+77delinsTGTAG	XP_011523156.1:n.1712+73_1712+77delinsTGTAG
XM_011524855.1:c.1712+73_1712+77delinsTGTAG	XP_011523157.1:n.1712+73_1712+77delinsTGTAG
XM_011524856.1:c.1712+73_1712+77delinsTGTAG	XP_011523158.1:n.1712+73_1712+77delinsTGTAG
XM_011524857.1:c.1751+73_1751+77delinsTGTAG	XP_011523159.1:n.1751+73_1751+77delinsTGTAG
NM_001042492.3:c.1721+73_1721+77delinsTGTAG MANE Select	NP_001035957.1:n.1721+73_1721+77delinsTGTAG
NM_001128147.3:c.*12_*16delinsTGTAG	NP_001121619.1:n.*12_*16delinsTGTAG