Canonical Allele Identifier: CA8486478

Gene: NF1

Linked Data

• ClinVar Variation Id: 701577
• ClinVar RCV Id: RCV002064641
• dbSNP Id: rs764411928
• ExAC: 17:29592366 TACTATGTTTTGGGTCTCTTA / T
• gnomAD v2: 17-29592366-TACTATGTTTTGGGTCTCTTA-T
• gnomAD v3: 17-31265348-TACTATGTTTTGGGTCTCTTA-T
• gnomAD v4: 17-31265348-TACTATGTTTTGGGTCTCTTA-T
• MyVariant Identifiers: chr17:g.29592367_29592386del (hg19) ; chr17:g.31265349_31265368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265351_31265370del , CM000679.2:g.31265351_31265370del	GRCh38
NC_000017.10:g.29592369_29592388del , CM000679.1:g.29592369_29592388del	GRCh37
NC_000017.9:g.26616495_26616514del	NCBI36
NG_009018.1:g.175375_175394del , LRG_214:g.175375_175394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.637+12_637+31del	ENSP00000492721.2:n.637+12_637+31del
ENST00000696138.1:c.4817+12_4817+31del	ENSP00000512431.1:n.4817+12_4817+31del
ENST00000696140.1:n.941+12_941+31del
ENST00000696141.1:c.826+12_826+31del
ENST00000687863.1:n.1480+12_1480+31del
ENST00000691014.1:c.4865+12_4865+31del	ENSP00000510595.1:n.4865+12_4865+31del
ENST00000358273.9:c.4835+12_4835+31del MANE Select	ENSP00000351015.4:n.4835+12_4835+31del
ENST00000356175.7:c.4772+12_4772+31del	ENSP00000348498.3:n.4772+12_4772+31del
ENST00000358273.8:c.4835+12_4835+31del	ENSP00000351015.4:n.4835+12_4835+31del
ENST00000456735.6:c.3770+12_3770+31del	ENSP00000389907.2:n.3770+12_3770+31del
ENST00000493220.5:n.3308+12_3308+31del
ENST00000579081.5:c.4874+12_4874+31del	ENSP00000462408.1:n.4874+12_4874+31del
NM_000267.3:c.4772+12_4772+31del , LRG_214t1:c.4772+12_4772+31del	NP_000258.1:n.4772+12_4772+31del
NM_001042492.2:c.4835+12_4835+31del , LRG_214t2:c.4835+12_4835+31del	NP_001035957.1:n.4835+12_4835+31del
XM_005257983.1:c.4835+12_4835+31del	XP_005258040.1:n.4835+12_4835+31del
XM_005257984.1:c.4772+12_4772+31del	XP_005258041.1:n.4772+12_4772+31del
XM_006721922.1:c.4865+12_4865+31del	XP_006721985.1:n.4865+12_4865+31del
XM_006721923.2:c.4826+12_4826+31del	XP_006721986.1:n.4826+12_4826+31del
XM_006721924.1:c.4865+12_4865+31del	XP_006721987.1:n.4865+12_4865+31del
XM_006721925.1:c.4802+12_4802+31del	XP_006721988.1:n.4802+12_4802+31del
XM_006721926.2:c.4865+12_4865+31del	XP_006721989.1:n.4865+12_4865+31del
XM_006721927.1:c.4865+12_4865+31del	XP_006721990.1:n.4865+12_4865+31del
XM_006721928.2:c.4865+12_4865+31del	XP_006721991.1:n.4865+12_4865+31del
XM_011524852.1:c.4862+12_4862+31del	XP_011523154.1:n.4862+12_4862+31del
XM_011524853.1:c.4826+12_4826+31del	XP_011523155.1:n.4826+12_4826+31del
XM_011524854.1:c.4826+12_4826+31del	XP_011523156.1:n.4826+12_4826+31del
XM_011524855.1:c.4826+12_4826+31del	XP_011523157.1:n.4826+12_4826+31del
XM_011524856.1:c.4826+12_4826+31del	XP_011523158.1:n.4826+12_4826+31del
XM_011524857.1:c.4865+12_4865+31del	XP_011523159.1:n.4865+12_4865+31del
NM_001042492.3:c.4835+12_4835+31del MANE Select	NP_001035957.1:n.4835+12_4835+31del