Canonical Allele Identifier: CA2695225358

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229051_31229072del , CM000679.2:g.31229051_31229072del	GRCh38
NC_000017.10:g.29556069_29556090del , CM000679.1:g.29556069_29556090del	GRCh37
NC_000017.9:g.26580195_26580216del	NCBI36
NG_009018.1:g.139075_139096del , LRG_214:g.139075_139096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2481_2502del	ENSP00000512431.1:p.Ile827MetfsTer2
ENST00000691014.1:c.2466_2487del	ENSP00000510595.1:p.Ile822MetfsTer2
ENST00000358273.9:c.2436_2457del MANE Select	ENSP00000351015.4:p.Ile812MetfsTer2
ENST00000356175.7:c.2436_2457del	ENSP00000348498.3:p.Ile812MetfsTer2
ENST00000358273.8:c.2436_2457del	ENSP00000351015.4:p.Ile812MetfsTer2
ENST00000456735.6:c.1434_1455del	ENSP00000389907.2:p.Ile478MetfsTer2
ENST00000493220.5:n.603_624del
ENST00000495910.6:c.2211_2232del
ENST00000579081.5:c.2538_2559del	ENSP00000462408.1:p.Ile846MetfsTer2
NM_000267.3:c.2436_2457del , LRG_214t1:c.2436_2457del	NP_000258.1:p.Ile812MetfsTer2
NM_001042492.2:c.2436_2457del , LRG_214t2:c.2436_2457del	NP_001035957.1:p.Ile812MetfsTer2
XM_005257983.1:c.2436_2457del	XP_005258040.1:p.Ile812MetfsTer2
XM_005257984.1:c.2436_2457del	XP_005258041.1:p.Ile812MetfsTer2
XM_006721922.1:c.2466_2487del	XP_006721985.1:p.Ile822MetfsTer2
XM_006721923.2:c.2427_2448del	XP_006721986.1:p.Ile809MetfsTer2
XM_006721924.1:c.2466_2487del	XP_006721987.1:p.Ile822MetfsTer2
XM_006721925.1:c.2466_2487del	XP_006721988.1:p.Ile822MetfsTer2
XM_006721926.2:c.2466_2487del	XP_006721989.1:p.Ile822MetfsTer2
XM_006721927.1:c.2466_2487del	XP_006721990.1:p.Ile822MetfsTer2
XM_006721928.2:c.2466_2487del	XP_006721991.1:p.Ile822MetfsTer2
XM_011524852.1:c.2463_2484del	XP_011523154.1:p.Ile821MetfsTer2
XM_011524853.1:c.2427_2448del	XP_011523155.1:p.Ile809MetfsTer2
XM_011524854.1:c.2427_2448del	XP_011523156.1:p.Ile809MetfsTer2
XM_011524855.1:c.2427_2448del	XP_011523157.1:p.Ile809MetfsTer2
XM_011524856.1:c.2427_2448del	XP_011523158.1:p.Ile809MetfsTer2
XM_011524857.1:c.2466_2487del	XP_011523159.1:p.Ile822MetfsTer2
NM_001042492.3:c.2436_2457del MANE Select	NP_001035957.1:p.Ile812MetfsTer2