Canonical Allele Identifier: CA645373098

Gene: NF1

Linked Data

• ClinVar Variation Id: 431651
• ClinVar RCV Id: RCV000497071 ; RCV000680826 ; RCV002341172 ; RCV003464066
• dbSNP Id: rs1135402868
• MyVariant Identifiers: chr17:g.29653038_29653043del (hg19) ; chr17:g.31326020_31326025del (hg38)
• PubMed: PMID:10534774

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31326020_31326025del , CM000679.2:g.31326020_31326025del	GRCh38
NC_000017.10:g.29653038_29653043del , CM000679.1:g.29653038_29653043del	GRCh37
NC_000017.9:g.26677164_26677169del	NCBI36
NG_009018.1:g.236044_236049del , LRG_214:g.236044_236049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1224_1229del	ENSP00000492721.2:n.1224_1229del
ENST00000696138.1:c.5018_5023del	ENSP00000512431.1:p.Ile1673_Tyr1674del
ENST00000684826.1:c.-401_-396del	ENSP00000509994.1:n.-401_-396del
ENST00000687027.1:c.-468_-463del	ENSP00000508715.1:n.-468_-463del
ENST00000687863.1:n.1681_1686del
ENST00000691014.1:c.5066_5071del	ENSP00000510595.1:p.Ile1689_Tyr1690del
ENST00000693617.1:c.-401_-396del	ENSP00000510031.1:n.-401_-396del
ENST00000358273.9:c.5036_5041del MANE Select	ENSP00000351015.4:p.Ile1679_Tyr1680del
ENST00000356175.7:c.4973_4978del	ENSP00000348498.3:p.Ile1658_Tyr1659del
ENST00000358273.8:c.5036_5041del	ENSP00000351015.4:p.Ile1679_Tyr1680del
ENST00000456735.6:c.3971_3976del	ENSP00000389907.2:p.Ile1324_Tyr1325del
ENST00000493220.5:n.3509_3514del
ENST00000579081.5:c.5172_5177del	ENSP00000462408.1:n.5172_5177del
ENST00000581113.6:n.353_358del
NM_000267.3:c.4973_4978del , LRG_214t1:c.4973_4978del	NP_000258.1:p.Ile1658_Tyr1659del
NM_001042492.2:c.5036_5041del , LRG_214t2:c.5036_5041del	NP_001035957.1:p.Ile1679_Tyr1680del
XM_005257983.1:c.5036_5041del	XP_005258040.1:p.Ile1679_Tyr1680del
XM_005257984.1:c.4973_4978del	XP_005258041.1:p.Ile1658_Tyr1659del
XM_006721922.1:c.5066_5071del	XP_006721985.1:p.Ile1689_Tyr1690del
XM_006721923.2:c.5027_5032del	XP_006721986.1:p.Ile1676_Tyr1677del
XM_006721924.1:c.5066_5071del	XP_006721987.1:p.Ile1689_Tyr1690del
XM_006721925.1:c.5003_5008del	XP_006721988.1:p.Ile1668_Tyr1669del
XM_006721926.2:c.5066_5071del	XP_006721989.1:p.Ile1689_Tyr1690del
XM_006721927.1:c.5066_5071del	XP_006721990.1:p.Ile1689_Tyr1690del
XM_011524852.1:c.5063_5068del	XP_011523154.1:p.Ile1688_Tyr1689del
XM_011524853.1:c.5027_5032del	XP_011523155.1:p.Ile1676_Tyr1677del
XM_011524854.1:c.5027_5032del	XP_011523156.1:p.Ile1676_Tyr1677del
XM_011524855.1:c.5027_5032del	XP_011523157.1:p.Ile1676_Tyr1677del
XM_011524856.1:c.5027_5032del	XP_011523158.1:p.Ile1676_Tyr1677del
XM_011524857.1:c.5066_5071del	XP_011523159.1:p.Ile1689_Tyr1690del
NM_001042492.3:c.5036_5041del MANE Select	NP_001035957.1:p.Ile1679_Tyr1680del