Canonical Allele Identifier: CA2637077789

Gene: NF1

Linked Data

• gnomAD v4: 17-31338033-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338035del , CM000679.2:g.31338035del	GRCh38
NC_000017.10:g.29665053del , CM000679.1:g.29665053del	GRCh37
NC_000017.9:g.26689179del	NCBI36
NG_009018.1:g.248059del , LRG_214:g.248059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6697del	ENSP00000512431.1:p.Gln2233AsnfsTer26
ENST00000684826.1:c.1279del	ENSP00000509994.1:p.Gln427AsnfsTer26
ENST00000684998.1:n.1973del
ENST00000687027.1:c.871del	ENSP00000508715.1:p.Gln291AsnfsTer26
ENST00000687863.1:n.3360del
ENST00000691014.1:c.6745del	ENSP00000510595.1:p.Gln2249AsnfsTer26
ENST00000693617.1:c.1279del	ENSP00000510031.1:p.Gln427AsnfsTer26
ENST00000358273.9:c.6715del MANE Select	ENSP00000351015.4:p.Gln2239AsnfsTer26
ENST00000356175.7:c.6652del	ENSP00000348498.3:p.Gln2218AsnfsTer26
ENST00000358273.8:c.6715del	ENSP00000351015.4:p.Gln2239AsnfsTer26
ENST00000456735.6:c.5650del	ENSP00000389907.2:p.Gln1884AsnfsTer26
ENST00000471572.6:c.98del
ENST00000579081.5:c.6851del	ENSP00000462408.1:n.6851del
ENST00000581790.5:c.64+155del
ENST00000584328.1:n.129del
NM_000267.3:c.6652del , LRG_214t1:c.6652del	NP_000258.1:p.Gln2218AsnfsTer26
NM_001042492.2:c.6715del , LRG_214t2:c.6715del	NP_001035957.1:p.Gln2239AsnfsTer26
XM_005257983.1:c.6715del	XP_005258040.1:p.Gln2239AsnfsTer26
XM_005257984.1:c.6652del	XP_005258041.1:p.Gln2218AsnfsTer26
XM_006721922.1:c.6745del	XP_006721985.1:p.Gln2249AsnfsTer26
XM_006721923.2:c.6706del	XP_006721986.1:p.Gln2236AsnfsTer26
XM_006721924.1:c.6745del	XP_006721987.1:p.Gln2249AsnfsTer26
XM_006721925.1:c.6682del	XP_006721988.1:p.Gln2228AsnfsTer26
XM_006721926.2:c.6745del	XP_006721989.1:p.Gln2249AsnfsTer26
XM_006721927.1:c.6745del	XP_006721990.1:p.Gln2249AsnfsTer26
XM_011524852.1:c.6742del	XP_011523154.1:p.Gln2248AsnfsTer26
XM_011524853.1:c.6706del	XP_011523155.1:p.Gln2236AsnfsTer26
XM_011524854.1:c.6706del	XP_011523156.1:p.Gln2236AsnfsTer26
XM_011524855.1:c.6706del	XP_011523157.1:p.Gln2236AsnfsTer26
XM_011524856.1:c.6706del	XP_011523158.1:p.Gln2236AsnfsTer26
XM_011524857.1:c.6745del	XP_011523159.1:p.Gln2249AsnfsTer26
NM_001042492.3:c.6715del MANE Select	NP_001035957.1:p.Gln2239AsnfsTer26