Canonical Allele Identifier: CA2697559606

Gene: NF1

Linked Data

• ClinVar Variation Id: 2748375
• ClinVar RCV Id: RCV003495597

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338056_31338057del , CM000679.2:g.31338056_31338057del	GRCh38
NC_000017.10:g.29665074_29665075del , CM000679.1:g.29665074_29665075del	GRCh37
NC_000017.9:g.26689200_26689201del	NCBI36
NG_009018.1:g.248080_248081del , LRG_214:g.248080_248081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6718_6719del	ENSP00000512431.1:p.Pro2240LysfsTer10
ENST00000684826.1:c.1300_1301del	ENSP00000509994.1:p.Pro434LysfsTer10
ENST00000684998.1:n.1994_1995del
ENST00000687027.1:c.892_893del	ENSP00000508715.1:p.Pro298LysfsTer10
ENST00000687863.1:n.3381_3382del
ENST00000691014.1:c.6766_6767del	ENSP00000510595.1:p.Pro2256LysfsTer10
ENST00000693617.1:c.1300_1301del	ENSP00000510031.1:p.Pro434LysfsTer10
ENST00000358273.9:c.6736_6737del MANE Select	ENSP00000351015.4:p.Pro2246LysfsTer10
ENST00000356175.7:c.6673_6674del	ENSP00000348498.3:p.Pro2225LysfsTer10
ENST00000358273.8:c.6736_6737del	ENSP00000351015.4:p.Pro2246LysfsTer10
ENST00000456735.6:c.5671_5672del	ENSP00000389907.2:p.Pro1891LysfsTer10
ENST00000471572.6:c.119_120del
ENST00000579081.5:c.6872_6873del	ENSP00000462408.1:n.6872_6873del
ENST00000581790.5:c.64+176_64+177del
ENST00000584328.1:n.150_151del
NM_000267.3:c.6673_6674del , LRG_214t1:c.6673_6674del	NP_000258.1:p.Pro2225LysfsTer10
NM_001042492.2:c.6736_6737del , LRG_214t2:c.6736_6737del	NP_001035957.1:p.Pro2246LysfsTer10
XM_005257983.1:c.6736_6737del	XP_005258040.1:p.Pro2246LysfsTer10
XM_005257984.1:c.6673_6674del	XP_005258041.1:p.Pro2225LysfsTer10
XM_006721922.1:c.6766_6767del	XP_006721985.1:p.Pro2256LysfsTer10
XM_006721923.2:c.6727_6728del	XP_006721986.1:p.Pro2243LysfsTer10
XM_006721924.1:c.6766_6767del	XP_006721987.1:p.Pro2256LysfsTer10
XM_006721925.1:c.6703_6704del	XP_006721988.1:p.Pro2235LysfsTer10
XM_006721926.2:c.6766_6767del	XP_006721989.1:p.Pro2256LysfsTer10
XM_006721927.1:c.6766_6767del	XP_006721990.1:p.Pro2256LysfsTer10
XM_011524852.1:c.6763_6764del	XP_011523154.1:p.Pro2255LysfsTer10
XM_011524853.1:c.6727_6728del	XP_011523155.1:p.Pro2243LysfsTer10
XM_011524854.1:c.6727_6728del	XP_011523156.1:p.Pro2243LysfsTer10
XM_011524855.1:c.6727_6728del	XP_011523157.1:p.Pro2243LysfsTer10
XM_011524856.1:c.6727_6728del	XP_011523158.1:p.Pro2243LysfsTer10
XM_011524857.1:c.6766_6767del	XP_011523159.1:p.Pro2256LysfsTer10
NM_001042492.3:c.6736_6737del MANE Select	NP_001035957.1:p.Pro2246LysfsTer10