Canonical Allele Identifier: CA2255603097

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338686_31338687delinsAT , CM000679.2:g.31338686_31338687delinsAT	GRCh38
NC_000017.10:g.29665704_29665705delinsAT , CM000679.1:g.29665704_29665705delinsAT	GRCh37
NC_000017.9:g.26689830_26689831delinsAT	NCBI36
NG_009018.1:g.248710_248711delinsAT , LRG_214:g.248710_248711delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6802-18_6802-17delinsAT	ENSP00000512431.1:n.6802-18_6802-17delinsAT
ENST00000684826.1:c.1384-18_1384-17delinsAT	ENSP00000509994.1:n.1384-18_1384-17delinsAT
ENST00000684998.1:n.2624_2625delinsAT
ENST00000687027.1:c.976-18_976-17delinsAT	ENSP00000508715.1:n.976-18_976-17delinsAT
ENST00000687863.1:n.3465-18_3465-17delinsAT
ENST00000691014.1:c.6850-18_6850-17delinsAT	ENSP00000510595.1:n.6850-18_6850-17delinsAT
ENST00000693617.1:c.1384-18_1384-17delinsAT	ENSP00000510031.1:n.1384-18_1384-17delinsAT
ENST00000358273.9:c.6820-18_6820-17delinsAT MANE Select	ENSP00000351015.4:n.6820-18_6820-17delinsAT
ENST00000356175.7:c.6757-18_6757-17delinsAT	ENSP00000348498.3:n.6757-18_6757-17delinsAT
ENST00000358273.8:c.6820-18_6820-17delinsAT	ENSP00000351015.4:n.6820-18_6820-17delinsAT
ENST00000456735.6:c.5755-18_5755-17delinsAT	ENSP00000389907.2:n.5755-18_5755-17delinsAT
ENST00000471572.6:c.203-18_203-17delinsAT
ENST00000579081.5:c.6956-18_6956-17delinsAT	ENSP00000462408.1:n.6956-18_6956-17delinsAT
ENST00000581790.5:c.64+806_64+807delinsAT
ENST00000584328.1:n.234-18_234-17delinsAT
NM_000267.3:c.6757-18_6757-17delinsAT , LRG_214t1:c.6757-18_6757-17delinsAT	NP_000258.1:n.6757-18_6757-17delinsAT
NM_001042492.2:c.6820-18_6820-17delinsAT , LRG_214t2:c.6820-18_6820-17delinsAT	NP_001035957.1:n.6820-18_6820-17delinsAT
XM_005257983.1:c.6820-18_6820-17delinsAT	XP_005258040.1:n.6820-18_6820-17delinsAT
XM_005257984.1:c.6757-18_6757-17delinsAT	XP_005258041.1:n.6757-18_6757-17delinsAT
XM_006721922.1:c.6850-18_6850-17delinsAT	XP_006721985.1:n.6850-18_6850-17delinsAT
XM_006721923.2:c.6811-18_6811-17delinsAT	XP_006721986.1:n.6811-18_6811-17delinsAT
XM_006721924.1:c.6850-18_6850-17delinsAT	XP_006721987.1:n.6850-18_6850-17delinsAT
XM_006721925.1:c.6787-18_6787-17delinsAT	XP_006721988.1:n.6787-18_6787-17delinsAT
XM_006721926.2:c.6850-18_6850-17delinsAT	XP_006721989.1:n.6850-18_6850-17delinsAT
XM_006721927.1:c.6850-18_6850-17delinsAT	XP_006721990.1:n.6850-18_6850-17delinsAT
XM_011524852.1:c.6847-18_6847-17delinsAT	XP_011523154.1:n.6847-18_6847-17delinsAT
XM_011524853.1:c.6811-18_6811-17delinsAT	XP_011523155.1:n.6811-18_6811-17delinsAT
XM_011524854.1:c.6811-18_6811-17delinsAT	XP_011523156.1:n.6811-18_6811-17delinsAT
XM_011524855.1:c.6811-18_6811-17delinsAT	XP_011523157.1:n.6811-18_6811-17delinsAT
XM_011524856.1:c.6811-18_6811-17delinsAT	XP_011523158.1:n.6811-18_6811-17delinsAT
XM_011524857.1:c.6850-18_6850-17delinsAT	XP_011523159.1:n.6850-18_6850-17delinsAT
NM_001042492.3:c.6820-18_6820-17delinsAT MANE Select	NP_001035957.1:n.6820-18_6820-17delinsAT