Canonical Allele Identifier: CA2697559566

Gene: NF1

Linked Data

• ClinVar Variation Id: 2709521
• ClinVar RCV Id: RCV003496349

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357029_31357030dup , CM000679.2:g.31357029_31357030dup	GRCh38
NC_000017.10:g.29684047_29684048dup , CM000679.1:g.29684047_29684048dup	GRCh37
NC_000017.9:g.26708173_26708174dup	NCBI36
NG_009018.1:g.267053_267054dup , LRG_214:g.267053_267054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7790_7791dup	ENSP00000512431.1:p.Leu2598PhefsTer21
ENST00000684826.1:c.2372_2373dup	ENSP00000509994.1:p.Leu792PhefsTer21
ENST00000687027.1:c.1964_1965dup	ENSP00000508715.1:p.Leu656PhefsTer21
ENST00000687863.1:n.4453_4454dup
ENST00000689464.1:c.858_859dup
ENST00000691014.1:c.7838_7839dup	ENSP00000510595.1:p.Leu2614PhefsTer21
ENST00000693617.1:c.2372_2373dup	ENSP00000510031.1:p.Leu792PhefsTer21
ENST00000358273.9:c.7808_7809dup MANE Select	ENSP00000351015.4:p.Leu2604PhefsTer21
ENST00000356175.7:c.7745_7746dup	ENSP00000348498.3:p.Leu2583PhefsTer21
ENST00000358273.8:c.7808_7809dup	ENSP00000351015.4:p.Leu2604PhefsTer21
ENST00000456735.6:c.6743_6744dup	ENSP00000389907.2:p.Leu2249PhefsTer21
ENST00000471572.6:c.1191_1192dup
ENST00000577967.1:n.1226_1227dup
ENST00000579081.5:c.7944_7945dup	ENSP00000462408.1:n.7944_7945dup
ENST00000581790.5:c.793_794dup
NM_000267.3:c.7745_7746dup , LRG_214t1:c.7745_7746dup	NP_000258.1:p.Leu2583PhefsTer21
NM_001042492.2:c.7808_7809dup , LRG_214t2:c.7808_7809dup	NP_001035957.1:p.Leu2604PhefsTer21
XM_005257983.1:c.7808_7809dup	XP_005258040.1:p.Leu2604PhefsTer21
XM_005257984.1:c.7745_7746dup	XP_005258041.1:p.Leu2583PhefsTer21
XM_006721922.1:c.7838_7839dup	XP_006721985.1:p.Leu2614PhefsTer21
XM_006721923.2:c.7799_7800dup	XP_006721986.1:p.Leu2601PhefsTer21
XM_006721924.1:c.7838_7839dup	XP_006721987.1:p.Leu2614PhefsTer21
XM_006721925.1:c.7775_7776dup	XP_006721988.1:p.Leu2593PhefsTer21
XM_006721926.2:c.7838_7839dup	XP_006721989.1:p.Leu2614PhefsTer21
XM_006721927.1:c.7838_7839dup	XP_006721990.1:p.Leu2614PhefsTer21
XM_011524852.1:c.7835_7836dup	XP_011523154.1:p.Leu2613PhefsTer21
XM_011524853.1:c.7799_7800dup	XP_011523155.1:p.Leu2601PhefsTer21
XM_011524854.1:c.7799_7800dup	XP_011523156.1:p.Leu2601PhefsTer21
XM_011524855.1:c.7799_7800dup	XP_011523157.1:p.Leu2601PhefsTer21
XM_011524856.1:c.7799_7800dup	XP_011523158.1:p.Leu2601PhefsTer21
XM_011524857.1:c.7715_7716dup	XP_011523159.1:p.Leu2573PhefsTer21
NM_001042492.3:c.7808_7809dup MANE Select	NP_001035957.1:p.Leu2604PhefsTer21