Canonical Allele Identifier: CA2255603111

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338709_31338711delinsTGA , CM000679.2:g.31338709_31338711delinsTGA	GRCh38
NC_000017.10:g.29665727_29665729delinsTGA , CM000679.1:g.29665727_29665729delinsTGA	GRCh37
NC_000017.9:g.26689853_26689855delinsTGA	NCBI36
NG_009018.1:g.248733_248735delinsTGA , LRG_214:g.248733_248735delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6807_6809delinsTGA	ENSP00000512431.1:p.Leu2269=
ENST00000684826.1:c.1389_1391delinsTGA	ENSP00000509994.1:p.Leu463=
ENST00000684998.1:n.2647_2649delinsTGA
ENST00000687027.1:c.981_983delinsTGA	ENSP00000508715.1:p.Leu327=
ENST00000687863.1:n.3470_3472delinsTGA
ENST00000691014.1:c.6855_6857delinsTGA	ENSP00000510595.1:p.Leu2285=
ENST00000693617.1:c.1389_1391delinsTGA	ENSP00000510031.1:p.Leu463=
ENST00000358273.9:c.6825_6827delinsTGA MANE Select	ENSP00000351015.4:p.Leu2275=
ENST00000356175.7:c.6762_6764delinsTGA	ENSP00000348498.3:p.Leu2254=
ENST00000358273.8:c.6825_6827delinsTGA	ENSP00000351015.4:p.Leu2275=
ENST00000456735.6:c.5760_5762delinsTGA	ENSP00000389907.2:p.Leu1920=
ENST00000471572.6:c.208_210delinsTGA
ENST00000579081.5:c.6961_6963delinsTGA	ENSP00000462408.1:n.6961_6963delinsTGA
ENST00000581790.5:c.64+829_64+831delinsTGA
ENST00000584328.1:n.239_241delinsTGA
NM_000267.3:c.6762_6764delinsTGA , LRG_214t1:c.6762_6764delinsTGA	NP_000258.1:p.Leu2254=
NM_001042492.2:c.6825_6827delinsTGA , LRG_214t2:c.6825_6827delinsTGA	NP_001035957.1:p.Leu2275=
XM_005257983.1:c.6825_6827delinsTGA	XP_005258040.1:p.Leu2275=
XM_005257984.1:c.6762_6764delinsTGA	XP_005258041.1:p.Leu2254=
XM_006721922.1:c.6855_6857delinsTGA	XP_006721985.1:p.Leu2285=
XM_006721923.2:c.6816_6818delinsTGA	XP_006721986.1:p.Leu2272=
XM_006721924.1:c.6855_6857delinsTGA	XP_006721987.1:p.Leu2285=
XM_006721925.1:c.6792_6794delinsTGA	XP_006721988.1:p.Leu2264=
XM_006721926.2:c.6855_6857delinsTGA	XP_006721989.1:p.Leu2285=
XM_006721927.1:c.6855_6857delinsTGA	XP_006721990.1:p.Leu2285=
XM_011524852.1:c.6852_6854delinsTGA	XP_011523154.1:p.Leu2284=
XM_011524853.1:c.6816_6818delinsTGA	XP_011523155.1:p.Leu2272=
XM_011524854.1:c.6816_6818delinsTGA	XP_011523156.1:p.Leu2272=
XM_011524855.1:c.6816_6818delinsTGA	XP_011523157.1:p.Leu2272=
XM_011524856.1:c.6816_6818delinsTGA	XP_011523158.1:p.Leu2272=
XM_011524857.1:c.6855_6857delinsTGA	XP_011523159.1:p.Leu2285=
NM_001042492.3:c.6825_6827delinsTGA MANE Select	NP_001035957.1:p.Leu2275=