Canonical Allele Identifier: CA891844547

Gene: NF1

Linked Data

• ClinVar Variation Id: 569660
• ClinVar RCV Id: RCV000690348 ; RCV003128643
• dbSNP Id: rs1567814432
• MyVariant Identifiers: chr17:g.29483031_29483032del (hg19) ; chr17:g.31156013_31156014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31156013_31156014del , CM000679.2:g.31156013_31156014del	GRCh38
NC_000017.10:g.29483031_29483032del , CM000679.1:g.29483031_29483032del	GRCh37
NC_000017.9:g.26507157_26507158del	NCBI36
NG_009018.1:g.66037_66038del , LRG_214:g.66037_66038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.91_92del	ENSP00000512431.1:p.His31TyrfsTer6
ENST00000691014.1:c.91_92del	ENSP00000510595.1:p.His31TyrfsTer6
ENST00000358273.9:c.91_92del MANE Select	ENSP00000351015.4:p.His31TyrfsTer6
ENST00000356175.7:c.91_92del	ENSP00000348498.3:p.His31TyrfsTer6
ENST00000358273.8:c.91_92del	ENSP00000351015.4:p.His31TyrfsTer6
ENST00000431387.8:c.91_92del	ENSP00000412921.4:p.His31TyrfsTer6
ENST00000487476.5:n.474_475del
ENST00000489712.6:c.-111_-110del	ENSP00000467284.1:n.-111_-110del
ENST00000579081.5:c.193_194del	ENSP00000462408.1:p.His65TyrfsTer6
NM_000267.3:c.91_92del , LRG_214t1:c.91_92del	NP_000258.1:p.His31TyrfsTer6
NM_001042492.2:c.91_92del , LRG_214t2:c.91_92del	NP_001035957.1:p.His31TyrfsTer6
NM_001128147.2:c.91_92del	NP_001121619.1:p.His31TyrfsTer6
XM_005257983.1:c.91_92del	XP_005258040.1:p.His31TyrfsTer6
XM_005257984.1:c.91_92del	XP_005258041.1:p.His31TyrfsTer6
XM_006721922.1:c.91_92del	XP_006721985.1:p.His31TyrfsTer6
XM_006721923.2:c.52_53del	XP_006721986.1:p.His18TyrfsTer6
XM_006721924.1:c.91_92del	XP_006721987.1:p.His31TyrfsTer6
XM_006721925.1:c.91_92del	XP_006721988.1:p.His31TyrfsTer6
XM_006721926.2:c.91_92del	XP_006721989.1:p.His31TyrfsTer6
XM_006721927.1:c.91_92del	XP_006721990.1:p.His31TyrfsTer6
XM_006721928.2:c.91_92del	XP_006721991.1:p.His31TyrfsTer6
XM_011524852.1:c.91_92del	XP_011523154.1:p.His31TyrfsTer6
XM_011524853.1:c.52_53del	XP_011523155.1:p.His18TyrfsTer6
XM_011524854.1:c.52_53del	XP_011523156.1:p.His18TyrfsTer6
XM_011524855.1:c.52_53del	XP_011523157.1:p.His18TyrfsTer6
XM_011524856.1:c.52_53del	XP_011523158.1:p.His18TyrfsTer6
XM_011524857.1:c.91_92del	XP_011523159.1:p.His31TyrfsTer6
NM_001042492.3:c.91_92del MANE Select	NP_001035957.1:p.His31TyrfsTer6
NM_001128147.3:c.91_92del	NP_001121619.1:p.His31TyrfsTer6