Canonical Allele Identifier: CA2580093162

Gene: NF1

Linked Data

• ClinVar Variation Id: 1755455
• ClinVar RCV Id: RCV002369423

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338738_31338739insTGA , CM000679.2:g.31338738_31338739insTGA	GRCh38
NC_000017.10:g.29665756_29665757insTGA , CM000679.1:g.29665756_29665757insTGA	GRCh37
NC_000017.9:g.26689882_26689883insTGA	NCBI36
NG_009018.1:g.248762_248763insTGA , LRG_214:g.248762_248763insTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6836_6837insTGA	ENSP00000512431.1:p.Tyr2279_Asn2280insAsp
ENST00000684826.1:c.1418_1419insTGA	ENSP00000509994.1:p.Tyr473_Asn474insAsp
ENST00000684998.1:n.2676_2677insTGA
ENST00000687027.1:c.1010_1011insTGA	ENSP00000508715.1:p.Tyr337_Asn338insAsp
ENST00000687863.1:n.3499_3500insTGA
ENST00000691014.1:c.6884_6885insTGA	ENSP00000510595.1:p.Tyr2295_Asn2296insAsp
ENST00000693617.1:c.1418_1419insTGA	ENSP00000510031.1:p.Tyr473_Asn474insAsp
ENST00000358273.9:c.6854_6855insTGA MANE Select	ENSP00000351015.4:p.Tyr2285_Asn2286insAsp
ENST00000356175.7:c.6791_6792insTGA	ENSP00000348498.3:p.Tyr2264_Asn2265insAsp
ENST00000358273.8:c.6854_6855insTGA	ENSP00000351015.4:p.Tyr2285_Asn2286insAsp
ENST00000456735.6:c.5789_5790insTGA	ENSP00000389907.2:p.Tyr1930_Asn1931insAsp
ENST00000471572.6:c.237_238insTGA
ENST00000579081.5:c.6990_6991insTGA	ENSP00000462408.1:n.6990_6991insTGA
ENST00000581790.5:c.64+858_64+859insTGA
ENST00000584328.1:n.268_269insTGA
NM_000267.3:c.6791_6792insTGA , LRG_214t1:c.6791_6792insTGA	NP_000258.1:p.Tyr2264_Asn2265insAsp
NM_001042492.2:c.6854_6855insTGA , LRG_214t2:c.6854_6855insTGA	NP_001035957.1:p.Tyr2285_Asn2286insAsp
XM_005257983.1:c.6854_6855insTGA	XP_005258040.1:p.Tyr2285_Asn2286insAsp
XM_005257984.1:c.6791_6792insTGA	XP_005258041.1:p.Tyr2264_Asn2265insAsp
XM_006721922.1:c.6884_6885insTGA	XP_006721985.1:p.Tyr2295_Asn2296insAsp
XM_006721923.2:c.6845_6846insTGA	XP_006721986.1:p.Tyr2282_Asn2283insAsp
XM_006721924.1:c.6884_6885insTGA	XP_006721987.1:p.Tyr2295_Asn2296insAsp
XM_006721925.1:c.6821_6822insTGA	XP_006721988.1:p.Tyr2274_Asn2275insAsp
XM_006721926.2:c.6884_6885insTGA	XP_006721989.1:p.Tyr2295_Asn2296insAsp
XM_006721927.1:c.6884_6885insTGA	XP_006721990.1:p.Tyr2295_Asn2296insAsp
XM_011524852.1:c.6881_6882insTGA	XP_011523154.1:p.Tyr2294_Asn2295insAsp
XM_011524853.1:c.6845_6846insTGA	XP_011523155.1:p.Tyr2282_Asn2283insAsp
XM_011524854.1:c.6845_6846insTGA	XP_011523156.1:p.Tyr2282_Asn2283insAsp
XM_011524855.1:c.6845_6846insTGA	XP_011523157.1:p.Tyr2282_Asn2283insAsp
XM_011524856.1:c.6845_6846insTGA	XP_011523158.1:p.Tyr2282_Asn2283insAsp
XM_011524857.1:c.6884_6885insTGA	XP_011523159.1:p.Tyr2295_Asn2296insAsp
NM_001042492.3:c.6854_6855insTGA MANE Select	NP_001035957.1:p.Tyr2285_Asn2286insAsp