Canonical Allele Identifier: CA2697559621

Gene: NF1

Linked Data

• ClinVar Variation Id: 2763797
• ClinVar RCV Id: RCV003496569

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338716_31338717insAAA , CM000679.2:g.31338716_31338717insAAA	GRCh38
NC_000017.10:g.29665734_29665735insAAA , CM000679.1:g.29665734_29665735insAAA	GRCh37
NC_000017.9:g.26689860_26689861insAAA	NCBI36
NG_009018.1:g.248740_248741insAAA , LRG_214:g.248740_248741insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6814_6815insAAA	ENSP00000512431.1:p.Cys2272Ter
ENST00000684826.1:c.1396_1397insAAA	ENSP00000509994.1:p.Cys466Ter
ENST00000684998.1:n.2654_2655insAAA
ENST00000687027.1:c.988_989insAAA	ENSP00000508715.1:p.Cys330Ter
ENST00000687863.1:n.3477_3478insAAA
ENST00000691014.1:c.6862_6863insAAA	ENSP00000510595.1:p.Cys2288Ter
ENST00000693617.1:c.1396_1397insAAA	ENSP00000510031.1:p.Cys466Ter
ENST00000358273.9:c.6832_6833insAAA MANE Select	ENSP00000351015.4:p.Cys2278Ter
ENST00000356175.7:c.6769_6770insAAA	ENSP00000348498.3:p.Cys2257Ter
ENST00000358273.8:c.6832_6833insAAA	ENSP00000351015.4:p.Cys2278Ter
ENST00000456735.6:c.5767_5768insAAA	ENSP00000389907.2:p.Cys1923Ter
ENST00000471572.6:c.215_216insAAA
ENST00000579081.5:c.6968_6969insAAA	ENSP00000462408.1:n.6968_6969insAAA
ENST00000581790.5:c.64+836_64+837insAAA
ENST00000584328.1:n.246_247insAAA
NM_000267.3:c.6769_6770insAAA , LRG_214t1:c.6769_6770insAAA	NP_000258.1:p.Cys2257Ter
NM_001042492.2:c.6832_6833insAAA , LRG_214t2:c.6832_6833insAAA	NP_001035957.1:p.Cys2278Ter
XM_005257983.1:c.6832_6833insAAA	XP_005258040.1:p.Cys2278Ter
XM_005257984.1:c.6769_6770insAAA	XP_005258041.1:p.Cys2257Ter
XM_006721922.1:c.6862_6863insAAA	XP_006721985.1:p.Cys2288Ter
XM_006721923.2:c.6823_6824insAAA	XP_006721986.1:p.Cys2275Ter
XM_006721924.1:c.6862_6863insAAA	XP_006721987.1:p.Cys2288Ter
XM_006721925.1:c.6799_6800insAAA	XP_006721988.1:p.Cys2267Ter
XM_006721926.2:c.6862_6863insAAA	XP_006721989.1:p.Cys2288Ter
XM_006721927.1:c.6862_6863insAAA	XP_006721990.1:p.Cys2288Ter
XM_011524852.1:c.6859_6860insAAA	XP_011523154.1:p.Cys2287Ter
XM_011524853.1:c.6823_6824insAAA	XP_011523155.1:p.Cys2275Ter
XM_011524854.1:c.6823_6824insAAA	XP_011523156.1:p.Cys2275Ter
XM_011524855.1:c.6823_6824insAAA	XP_011523157.1:p.Cys2275Ter
XM_011524856.1:c.6823_6824insAAA	XP_011523158.1:p.Cys2275Ter
XM_011524857.1:c.6862_6863insAAA	XP_011523159.1:p.Cys2288Ter
NM_001042492.3:c.6832_6833insAAA MANE Select	NP_001035957.1:p.Cys2278Ter