Canonical Allele Identifier: CA658656554

Gene: NF1

Linked Data

• ClinVar Variation Id: 457609
• ClinVar RCV Id: RCV000524951
• dbSNP Id: rs1555614458
• MyVariant Identifiers: chr17:g.29556971_29556972dup (hg19) ; chr17:g.31229953_31229954dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229953_31229954dup , CM000679.2:g.31229953_31229954dup	GRCh38
NC_000017.10:g.29556971_29556972dup , CM000679.1:g.29556971_29556972dup	GRCh37
NC_000017.9:g.26581097_26581098dup	NCBI36
NG_009018.1:g.139977_139978dup , LRG_214:g.139977_139978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3014_3015dup	ENSP00000512431.1:p.Met1006GlnfsTer2
ENST00000696139.1:c.314_315dup	ENSP00000512432.1:p.Met106GlnfsTer2
ENST00000691014.1:c.2999_3000dup	ENSP00000510595.1:p.Met1001GlnfsTer2
ENST00000358273.9:c.2969_2970dup MANE Select	ENSP00000351015.4:p.Met991GlnfsTer2
ENST00000356175.7:c.2969_2970dup	ENSP00000348498.3:p.Met991GlnfsTer2
ENST00000358273.8:c.2969_2970dup	ENSP00000351015.4:p.Met991GlnfsTer2
ENST00000456735.6:c.1967_1968dup	ENSP00000389907.2:p.Met657GlnfsTer2
ENST00000493220.5:n.1505_1506dup
ENST00000495910.6:c.2744_2745dup
ENST00000579081.5:c.3071_3072dup	ENSP00000462408.1:p.Met1025GlnfsTer2
NM_000267.3:c.2969_2970dup , LRG_214t1:c.2969_2970dup	NP_000258.1:p.Met991GlnfsTer2
NM_001042492.2:c.2969_2970dup , LRG_214t2:c.2969_2970dup	NP_001035957.1:p.Met991GlnfsTer2
XM_005257983.1:c.2969_2970dup	XP_005258040.1:p.Met991GlnfsTer2
XM_005257984.1:c.2969_2970dup	XP_005258041.1:p.Met991GlnfsTer2
XM_006721922.1:c.2999_3000dup	XP_006721985.1:p.Met1001GlnfsTer2
XM_006721923.2:c.2960_2961dup	XP_006721986.1:p.Met988GlnfsTer2
XM_006721924.1:c.2999_3000dup	XP_006721987.1:p.Met1001GlnfsTer2
XM_006721925.1:c.2999_3000dup	XP_006721988.1:p.Met1001GlnfsTer2
XM_006721926.2:c.2999_3000dup	XP_006721989.1:p.Met1001GlnfsTer2
XM_006721927.1:c.2999_3000dup	XP_006721990.1:p.Met1001GlnfsTer2
XM_006721928.2:c.2999_3000dup	XP_006721991.1:p.Met1001GlnfsTer2
XM_011524852.1:c.2996_2997dup	XP_011523154.1:p.Met1000GlnfsTer2
XM_011524853.1:c.2960_2961dup	XP_011523155.1:p.Met988GlnfsTer2
XM_011524854.1:c.2960_2961dup	XP_011523156.1:p.Met988GlnfsTer2
XM_011524855.1:c.2960_2961dup	XP_011523157.1:p.Met988GlnfsTer2
XM_011524856.1:c.2960_2961dup	XP_011523158.1:p.Met988GlnfsTer2
XM_011524857.1:c.2999_3000dup	XP_011523159.1:p.Met1001GlnfsTer2
NM_001042492.3:c.2969_2970dup MANE Select	NP_001035957.1:p.Met991GlnfsTer2