Canonical Allele Identifier: CA2733616414

Gene: NF1

Linked Data

• dbSNP Id: rs2151430823

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229964_31229965del , CM000679.2:g.31229964_31229965del	GRCh38
NC_000017.10:g.29556982_29556983del , CM000679.1:g.29556982_29556983del	GRCh37
NC_000017.9:g.26581108_26581109del	NCBI36
NG_009018.1:g.139988_139989del , LRG_214:g.139988_139989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3025_3026del	ENSP00000512431.1:p.Asn1009SerfsTer26
ENST00000696139.1:c.325_326del	ENSP00000512432.1:p.Asn109SerfsTer26
ENST00000691014.1:c.3010_3011del	ENSP00000510595.1:p.Asn1004SerfsTer26
ENST00000358273.9:c.2980_2981del MANE Select	ENSP00000351015.4:p.Asn994SerfsTer26
ENST00000356175.7:c.2980_2981del	ENSP00000348498.3:p.Asn994SerfsTer26
ENST00000358273.8:c.2980_2981del	ENSP00000351015.4:p.Asn994SerfsTer26
ENST00000456735.6:c.1978_1979del	ENSP00000389907.2:p.Asn660SerfsTer26
ENST00000493220.5:n.1516_1517del
ENST00000495910.6:c.2755_2756del
ENST00000579081.5:c.3082_3083del	ENSP00000462408.1:p.Asn1028SerfsTer26
NM_000267.3:c.2980_2981del , LRG_214t1:c.2980_2981del	NP_000258.1:p.Asn994SerfsTer26
NM_001042492.2:c.2980_2981del , LRG_214t2:c.2980_2981del	NP_001035957.1:p.Asn994SerfsTer26
XM_005257983.1:c.2980_2981del	XP_005258040.1:p.Asn994SerfsTer26
XM_005257984.1:c.2980_2981del	XP_005258041.1:p.Asn994SerfsTer26
XM_006721922.1:c.3010_3011del	XP_006721985.1:p.Asn1004SerfsTer26
XM_006721923.2:c.2971_2972del	XP_006721986.1:p.Asn991SerfsTer26
XM_006721924.1:c.3010_3011del	XP_006721987.1:p.Asn1004SerfsTer26
XM_006721925.1:c.3010_3011del	XP_006721988.1:p.Asn1004SerfsTer26
XM_006721926.2:c.3010_3011del	XP_006721989.1:p.Asn1004SerfsTer26
XM_006721927.1:c.3010_3011del	XP_006721990.1:p.Asn1004SerfsTer26
XM_006721928.2:c.3010_3011del	XP_006721991.1:p.Asn1004SerfsTer26
XM_011524852.1:c.3007_3008del	XP_011523154.1:p.Asn1003SerfsTer26
XM_011524853.1:c.2971_2972del	XP_011523155.1:p.Asn991SerfsTer26
XM_011524854.1:c.2971_2972del	XP_011523156.1:p.Asn991SerfsTer26
XM_011524855.1:c.2971_2972del	XP_011523157.1:p.Asn991SerfsTer26
XM_011524856.1:c.2971_2972del	XP_011523158.1:p.Asn991SerfsTer26
XM_011524857.1:c.3010_3011del	XP_011523159.1:p.Asn1004SerfsTer26
NM_001042492.3:c.2980_2981del MANE Select	NP_001035957.1:p.Asn994SerfsTer26