Canonical Allele Identifier: CA658656553

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31181757_31181758delinsAC , CM000679.2:g.31181757_31181758delinsAC	GRCh38
NC_000017.10:g.29508775_29508776delinsAC , CM000679.1:g.29508775_29508776delinsAC	GRCh37
NC_000017.9:g.26532901_26532902delinsAC	NCBI36
NG_009018.1:g.91781_91782delinsAC , LRG_214:g.91781_91782delinsAC

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.702_703delinsAC MANE Select	NP_001035957.1:p.Tyr235His
ENST00000358273.9:c.702_703delinsAC MANE Select	ENSP00000351015.4:p.Tyr235His
NM_000267.3:c.702_703delinsAC , LRG_214t1:c.702_703delinsAC	NP_000258.1:p.Tyr235His
NM_001042492.2:c.702_703delinsAC , LRG_214t2:c.702_703delinsAC	NP_001035957.1:p.Tyr235His
NM_001128147.2:c.702_703delinsAC	NP_001121619.1:p.Tyr235His
NM_001128147.3:c.702_703delinsAC	NP_001121619.1:p.Tyr235His
ENST00000356175.7:c.702_703delinsAC	ENSP00000348498.3:p.Tyr235His
ENST00000358273.8:c.702_703delinsAC	ENSP00000351015.4:p.Tyr235His
ENST00000431387.8:c.702_703delinsAC	ENSP00000412921.4:p.Tyr235His
ENST00000487476.5:n.1085_1086delinsAC
ENST00000490416.1:n.336_337delinsAC
ENST00000490416.2:c.282_283delinsAC	ENSP00000491431.1:p.Tyr95His
ENST00000495910.6:c.477_478delinsAC
ENST00000579081.5:c.804_805delinsAC	ENSP00000462408.1:p.Tyr269His
ENST00000686189.1:c.117_118delinsAC	ENSP00000509682.1:p.Tyr40His
ENST00000691014.1:c.702_703delinsAC	ENSP00000510595.1:p.Tyr235His
ENST00000696138.1:c.702_703delinsAC	ENSP00000512431.1:p.Tyr235His
XM_005257983.1:c.702_703delinsAC	XP_005258040.1:p.Tyr235His
XM_005257984.1:c.702_703delinsAC	XP_005258041.1:p.Tyr235His
XM_006721922.1:c.702_703delinsAC	XP_006721985.1:p.Tyr235His
XM_006721923.2:c.663_664delinsAC	XP_006721986.1:p.Tyr222His
XM_006721924.1:c.702_703delinsAC	XP_006721987.1:p.Tyr235His
XM_006721925.1:c.702_703delinsAC	XP_006721988.1:p.Tyr235His
XM_006721926.2:c.702_703delinsAC	XP_006721989.1:p.Tyr235His
XM_006721927.1:c.702_703delinsAC	XP_006721990.1:p.Tyr235His
XM_006721928.2:c.702_703delinsAC	XP_006721991.1:p.Tyr235His
XM_011524852.1:c.702_703delinsAC	XP_011523154.1:p.Tyr235His
XM_011524853.1:c.663_664delinsAC	XP_011523155.1:p.Tyr222His
XM_011524854.1:c.663_664delinsAC	XP_011523156.1:p.Tyr222His
XM_011524855.1:c.663_664delinsAC	XP_011523157.1:p.Tyr222His
XM_011524856.1:c.663_664delinsAC	XP_011523158.1:p.Tyr222His
XM_011524857.1:c.702_703delinsAC	XP_011523159.1:p.Tyr235His