Canonical Allele Identifier: CA2510121487

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201480_31201481insATA , CM000679.2:g.31201480_31201481insATA	GRCh38
NC_000017.10:g.29528498_29528499insATA , CM000679.1:g.29528498_29528499insATA	GRCh37
NC_000017.9:g.26552624_26552625insATA	NCBI36
NG_009018.1:g.111504_111505insATA , LRG_214:g.111504_111505insATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1255_1256insATA	ENSP00000512431.1:p.Ile418_Thr419insAsn
ENST00000686189.1:c.670_671insATA	ENSP00000509682.1:p.Ile223_Thr224insAsn
ENST00000688507.1:n.961_962insATA
ENST00000691014.1:c.1255_1256insATA	ENSP00000510595.1:p.Ile418_Thr419insAsn
ENST00000692326.1:n.1538_1539insATA
ENST00000358273.9:c.1255_1256insATA MANE Select	ENSP00000351015.4:p.Ile418_Thr419insAsn
ENST00000356175.7:c.1255_1256insATA	ENSP00000348498.3:p.Ile418_Thr419insAsn
ENST00000358273.8:c.1255_1256insATA	ENSP00000351015.4:p.Ile418_Thr419insAsn
ENST00000431387.8:c.1255_1256insATA	ENSP00000412921.4:p.Ile418_Thr419insAsn
ENST00000456735.6:c.253_254insATA	ENSP00000389907.2:p.Ile84_Thr85insAsn
ENST00000487476.5:n.1638_1639insATA
ENST00000495910.6:c.1030_1031insATA
ENST00000579081.5:c.1357_1358insATA	ENSP00000462408.1:p.Ile452_Thr453insAsn
NM_000267.3:c.1255_1256insATA , LRG_214t1:c.1255_1256insATA	NP_000258.1:p.Ile418_Thr419insAsn
NM_001042492.2:c.1255_1256insATA , LRG_214t2:c.1255_1256insATA	NP_001035957.1:p.Ile418_Thr419insAsn
NM_001128147.2:c.1255_1256insATA	NP_001121619.1:p.Ile418_Thr419insAsn
XM_005257983.1:c.1255_1256insATA	XP_005258040.1:p.Ile418_Thr419insAsn
XM_005257984.1:c.1255_1256insATA	XP_005258041.1:p.Ile418_Thr419insAsn
XM_006721922.1:c.1255_1256insATA	XP_006721985.1:p.Ile418_Thr419insAsn
XM_006721923.2:c.1216_1217insATA	XP_006721986.1:p.Ile405_Thr406insAsn
XM_006721924.1:c.1255_1256insATA	XP_006721987.1:p.Ile418_Thr419insAsn
XM_006721925.1:c.1255_1256insATA	XP_006721988.1:p.Ile418_Thr419insAsn
XM_006721926.2:c.1255_1256insATA	XP_006721989.1:p.Ile418_Thr419insAsn
XM_006721927.1:c.1255_1256insATA	XP_006721990.1:p.Ile418_Thr419insAsn
XM_006721928.2:c.1255_1256insATA	XP_006721991.1:p.Ile418_Thr419insAsn
XM_011524852.1:c.1255_1256insATA	XP_011523154.1:p.Ile418_Thr419insAsn
XM_011524853.1:c.1216_1217insATA	XP_011523155.1:p.Ile405_Thr406insAsn
XM_011524854.1:c.1216_1217insATA	XP_011523156.1:p.Ile405_Thr406insAsn
XM_011524855.1:c.1216_1217insATA	XP_011523157.1:p.Ile405_Thr406insAsn
XM_011524856.1:c.1216_1217insATA	XP_011523158.1:p.Ile405_Thr406insAsn
XM_011524857.1:c.1255_1256insATA	XP_011523159.1:p.Ile418_Thr419insAsn
NM_001042492.3:c.1255_1256insATA MANE Select	NP_001035957.1:p.Ile418_Thr419insAsn
NM_001128147.3:c.1255_1256insATA	NP_001121619.1:p.Ile418_Thr419insAsn