Canonical Allele Identifier: CA2255605093

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343073_31343074delinsAT , CM000679.2:g.31343073_31343074delinsAT	GRCh38
NC_000017.10:g.29670091_29670092delinsAT , CM000679.1:g.29670091_29670092delinsAT	GRCh37
NC_000017.9:g.26694217_26694218delinsAT	NCBI36
NG_009018.1:g.253097_253098delinsAT , LRG_214:g.253097_253098delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7109_7110delinsAT	ENSP00000512431.1:p.His2370=
ENST00000684826.1:c.1691_1692delinsAT	ENSP00000509994.1:p.His564=
ENST00000687027.1:c.1283_1284delinsAT	ENSP00000508715.1:p.His428=
ENST00000687863.1:n.3772_3773delinsAT
ENST00000689464.1:c.66_67delinsAT
ENST00000691014.1:c.7157_7158delinsAT	ENSP00000510595.1:p.His2386=
ENST00000693617.1:c.1691_1692delinsAT	ENSP00000510031.1:p.His564=
ENST00000358273.9:c.7127_7128delinsAT MANE Select	ENSP00000351015.4:p.His2376=
ENST00000356175.7:c.7064_7065delinsAT	ENSP00000348498.3:p.His2355=
ENST00000358273.8:c.7127_7128delinsAT	ENSP00000351015.4:p.His2376=
ENST00000456735.6:c.6062_6063delinsAT	ENSP00000389907.2:p.His2021=
ENST00000471572.6:c.510_511delinsAT
ENST00000579081.5:c.7263_7264delinsAT	ENSP00000462408.1:n.7263_7264delinsAT
ENST00000581790.5:c.270_271delinsAT
ENST00000582892.1:n.369_370delinsAT
ENST00000584328.1:n.541_542delinsAT
NM_000267.3:c.7064_7065delinsAT , LRG_214t1:c.7064_7065delinsAT	NP_000258.1:p.His2355=
NM_001042492.2:c.7127_7128delinsAT , LRG_214t2:c.7127_7128delinsAT	NP_001035957.1:p.His2376=
XM_005257983.1:c.7127_7128delinsAT	XP_005258040.1:p.His2376=
XM_005257984.1:c.7064_7065delinsAT	XP_005258041.1:p.His2355=
XM_006721922.1:c.7157_7158delinsAT	XP_006721985.1:p.His2386=
XM_006721923.2:c.7118_7119delinsAT	XP_006721986.1:p.His2373=
XM_006721924.1:c.7157_7158delinsAT	XP_006721987.1:p.His2386=
XM_006721925.1:c.7094_7095delinsAT	XP_006721988.1:p.His2365=
XM_006721926.2:c.7157_7158delinsAT	XP_006721989.1:p.His2386=
XM_006721927.1:c.7157_7158delinsAT	XP_006721990.1:p.His2386=
XM_011524852.1:c.7154_7155delinsAT	XP_011523154.1:p.His2385=
XM_011524853.1:c.7118_7119delinsAT	XP_011523155.1:p.His2373=
XM_011524854.1:c.7118_7119delinsAT	XP_011523156.1:p.His2373=
XM_011524855.1:c.7118_7119delinsAT	XP_011523157.1:p.His2373=
XM_011524856.1:c.7118_7119delinsAT	XP_011523158.1:p.His2373=
XM_011524857.1:c.7157_7158delinsAT	XP_011523159.1:p.His2386=
NM_001042492.3:c.7127_7128delinsAT MANE Select	NP_001035957.1:p.His2376=