Canonical Allele Identifier: CA2255605107

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343097_31343103delinsCTAACTT , CM000679.2:g.31343097_31343103delinsCTAACTT	GRCh38
NC_000017.10:g.29670115_29670121delinsCTAACTT , CM000679.1:g.29670115_29670121delinsCTAACTT	GRCh37
NC_000017.9:g.26694241_26694247delinsCTAACTT	NCBI36
NG_009018.1:g.253121_253127delinsCTAACTT , LRG_214:g.253121_253127delinsCTAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7133_7139delinsCTAACTT	ENSP00000512431.1:p.Ser2378=
ENST00000684826.1:c.1715_1721delinsCTAACTT	ENSP00000509994.1:p.Ser572=
ENST00000687027.1:c.1307_1313delinsCTAACTT	ENSP00000508715.1:p.Ser436=
ENST00000687863.1:n.3796_3802delinsCTAACTT
ENST00000689464.1:c.90_96delinsCTAACTT
ENST00000691014.1:c.7181_7187delinsCTAACTT	ENSP00000510595.1:p.Ser2394=
ENST00000693617.1:c.1715_1721delinsCTAACTT	ENSP00000510031.1:p.Ser572=
ENST00000358273.9:c.7151_7157delinsCTAACTT MANE Select	ENSP00000351015.4:p.Ser2384=
ENST00000356175.7:c.7088_7094delinsCTAACTT	ENSP00000348498.3:p.Ser2363=
ENST00000358273.8:c.7151_7157delinsCTAACTT	ENSP00000351015.4:p.Ser2384=
ENST00000456735.6:c.6086_6092delinsCTAACTT	ENSP00000389907.2:p.Ser2029=
ENST00000471572.6:c.534_540delinsCTAACTT
ENST00000579081.5:c.7287_7293delinsCTAACTT	ENSP00000462408.1:n.7287_7293delinsCTAACTT
ENST00000581790.5:c.294_300delinsCTAACTT
ENST00000582892.1:n.393_399delinsCTAACTT
NM_000267.3:c.7088_7094delinsCTAACTT , LRG_214t1:c.7088_7094delinsCTAACTT	NP_000258.1:p.Ser2363=
NM_001042492.2:c.7151_7157delinsCTAACTT , LRG_214t2:c.7151_7157delinsCTAACTT	NP_001035957.1:p.Ser2384=
XM_005257983.1:c.7151_7157delinsCTAACTT	XP_005258040.1:p.Ser2384=
XM_005257984.1:c.7088_7094delinsCTAACTT	XP_005258041.1:p.Ser2363=
XM_006721922.1:c.7181_7187delinsCTAACTT	XP_006721985.1:p.Ser2394=
XM_006721923.2:c.7142_7148delinsCTAACTT	XP_006721986.1:p.Ser2381=
XM_006721924.1:c.7181_7187delinsCTAACTT	XP_006721987.1:p.Ser2394=
XM_006721925.1:c.7118_7124delinsCTAACTT	XP_006721988.1:p.Ser2373=
XM_006721926.2:c.7181_7187delinsCTAACTT	XP_006721989.1:p.Ser2394=
XM_006721927.1:c.7181_7187delinsCTAACTT	XP_006721990.1:p.Ser2394=
XM_011524852.1:c.7178_7184delinsCTAACTT	XP_011523154.1:p.Ser2393=
XM_011524853.1:c.7142_7148delinsCTAACTT	XP_011523155.1:p.Ser2381=
XM_011524854.1:c.7142_7148delinsCTAACTT	XP_011523156.1:p.Ser2381=
XM_011524855.1:c.7142_7148delinsCTAACTT	XP_011523157.1:p.Ser2381=
XM_011524856.1:c.7142_7148delinsCTAACTT	XP_011523158.1:p.Ser2381=
XM_011524857.1:c.7181_7187delinsCTAACTT	XP_011523159.1:p.Ser2394=
NM_001042492.3:c.7151_7157delinsCTAACTT MANE Select	NP_001035957.1:p.Ser2384=