Canonical Allele Identifier: CA2255619567

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334859_31334860delinsGT , CM000679.2:g.31334859_31334860delinsGT	GRCh38
NC_000017.10:g.29661877_29661878delinsGT , CM000679.1:g.29661877_29661878delinsGT	GRCh37
NC_000017.9:g.26686003_26686004delinsGT	NCBI36
NG_009018.1:g.244883_244884delinsGT , LRG_214:g.244883_244884delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2022_2023delinsGT	ENSP00000492721.2:n.2022_2023delinsGT
ENST00000696138.1:c.5816_5817delinsGT	ENSP00000512431.1:p.Cys1939=
ENST00000684826.1:c.398_399delinsGT	ENSP00000509994.1:p.Cys133=
ENST00000687027.1:c.-11_-10delinsGT	ENSP00000508715.1:n.-11_-10delinsGT
ENST00000687863.1:n.2479_2480delinsGT
ENST00000691014.1:c.5864_5865delinsGT	ENSP00000510595.1:p.Cys1955=
ENST00000693617.1:c.398_399delinsGT	ENSP00000510031.1:p.Cys133=
ENST00000358273.9:c.5834_5835delinsGT MANE Select	ENSP00000351015.4:p.Cys1945=
ENST00000356175.7:c.5771_5772delinsGT	ENSP00000348498.3:p.Cys1924=
ENST00000358273.8:c.5834_5835delinsGT	ENSP00000351015.4:p.Cys1945=
ENST00000456735.6:c.4769_4770delinsGT	ENSP00000389907.2:p.Cys1590=
ENST00000479536.2:c.259_260delinsGT
ENST00000579081.5:c.5970_5971delinsGT	ENSP00000462408.1:n.5970_5971delinsGT
ENST00000581113.6:n.1151_1152delinsGT
NM_000267.3:c.5771_5772delinsGT , LRG_214t1:c.5771_5772delinsGT	NP_000258.1:p.Cys1924=
NM_001042492.2:c.5834_5835delinsGT , LRG_214t2:c.5834_5835delinsGT	NP_001035957.1:p.Cys1945=
XM_005257983.1:c.5834_5835delinsGT	XP_005258040.1:p.Cys1945=
XM_005257984.1:c.5771_5772delinsGT	XP_005258041.1:p.Cys1924=
XM_006721922.1:c.5864_5865delinsGT	XP_006721985.1:p.Cys1955=
XM_006721923.2:c.5825_5826delinsGT	XP_006721986.1:p.Cys1942=
XM_006721924.1:c.5864_5865delinsGT	XP_006721987.1:p.Cys1955=
XM_006721925.1:c.5801_5802delinsGT	XP_006721988.1:p.Cys1934=
XM_006721926.2:c.5864_5865delinsGT	XP_006721989.1:p.Cys1955=
XM_006721927.1:c.5864_5865delinsGT	XP_006721990.1:p.Cys1955=
XM_011524852.1:c.5861_5862delinsGT	XP_011523154.1:p.Cys1954=
XM_011524853.1:c.5825_5826delinsGT	XP_011523155.1:p.Cys1942=
XM_011524854.1:c.5825_5826delinsGT	XP_011523156.1:p.Cys1942=
XM_011524855.1:c.5825_5826delinsGT	XP_011523157.1:p.Cys1942=
XM_011524856.1:c.5825_5826delinsGT	XP_011523158.1:p.Cys1942=
XM_011524857.1:c.5864_5865delinsGT	XP_011523159.1:p.Cys1955=
NM_001042492.3:c.5834_5835delinsGT MANE Select	NP_001035957.1:p.Cys1945=