Canonical Allele Identifier: CA2255602868

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338111_31338112delinsTA , CM000679.2:g.31338111_31338112delinsTA	GRCh38
NC_000017.10:g.29665129_29665130delinsTA , CM000679.1:g.29665129_29665130delinsTA	GRCh37
NC_000017.9:g.26689255_26689256delinsTA	NCBI36
NG_009018.1:g.248135_248136delinsTA , LRG_214:g.248135_248136delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6773_6774delinsTA	ENSP00000512431.1:p.Ile2258=
ENST00000684826.1:c.1355_1356delinsTA	ENSP00000509994.1:p.Ile452=
ENST00000684998.1:n.2049_2050delinsTA
ENST00000687027.1:c.947_948delinsTA	ENSP00000508715.1:p.Ile316=
ENST00000687863.1:n.3436_3437delinsTA
ENST00000691014.1:c.6821_6822delinsTA	ENSP00000510595.1:p.Ile2274=
ENST00000693617.1:c.1355_1356delinsTA	ENSP00000510031.1:p.Ile452=
ENST00000358273.9:c.6791_6792delinsTA MANE Select	ENSP00000351015.4:p.Ile2264=
ENST00000356175.7:c.6728_6729delinsTA	ENSP00000348498.3:p.Ile2243=
ENST00000358273.8:c.6791_6792delinsTA	ENSP00000351015.4:p.Ile2264=
ENST00000456735.6:c.5726_5727delinsTA	ENSP00000389907.2:p.Ile1909=
ENST00000471572.6:c.174_175delinsTA
ENST00000579081.5:c.6927_6928delinsTA	ENSP00000462408.1:n.6927_6928delinsTA
ENST00000581790.5:c.64+231_64+232delinsTA
ENST00000584328.1:n.205_206delinsTA
NM_000267.3:c.6728_6729delinsTA , LRG_214t1:c.6728_6729delinsTA	NP_000258.1:p.Ile2243=
NM_001042492.2:c.6791_6792delinsTA , LRG_214t2:c.6791_6792delinsTA	NP_001035957.1:p.Ile2264=
XM_005257983.1:c.6791_6792delinsTA	XP_005258040.1:p.Ile2264=
XM_005257984.1:c.6728_6729delinsTA	XP_005258041.1:p.Ile2243=
XM_006721922.1:c.6821_6822delinsTA	XP_006721985.1:p.Ile2274=
XM_006721923.2:c.6782_6783delinsTA	XP_006721986.1:p.Ile2261=
XM_006721924.1:c.6821_6822delinsTA	XP_006721987.1:p.Ile2274=
XM_006721925.1:c.6758_6759delinsTA	XP_006721988.1:p.Ile2253=
XM_006721926.2:c.6821_6822delinsTA	XP_006721989.1:p.Ile2274=
XM_006721927.1:c.6821_6822delinsTA	XP_006721990.1:p.Ile2274=
XM_011524852.1:c.6818_6819delinsTA	XP_011523154.1:p.Ile2273=
XM_011524853.1:c.6782_6783delinsTA	XP_011523155.1:p.Ile2261=
XM_011524854.1:c.6782_6783delinsTA	XP_011523156.1:p.Ile2261=
XM_011524855.1:c.6782_6783delinsTA	XP_011523157.1:p.Ile2261=
XM_011524856.1:c.6782_6783delinsTA	XP_011523158.1:p.Ile2261=
XM_011524857.1:c.6821_6822delinsTA	XP_011523159.1:p.Ile2274=
NM_001042492.3:c.6791_6792delinsTA MANE Select	NP_001035957.1:p.Ile2264=