Canonical Allele Identifier: CA658760996

Gene: NF1

Linked Data

• ClinVar Variation Id: 2736574
• ClinVar RCV Id: RCV003494746
• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338738_31338739insAA , CM000679.2:g.31338738_31338739insAA	GRCh38
NC_000017.10:g.29665756_29665757insAA , CM000679.1:g.29665756_29665757insAA	GRCh37
NC_000017.9:g.26689882_26689883insAA	NCBI36
NG_009018.1:g.248762_248763insAA , LRG_214:g.248762_248763insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6836_6837insAA	ENSP00000512431.1:p.Tyr2279Ter
ENST00000684826.1:c.1418_1419insAA	ENSP00000509994.1:p.Tyr473Ter
ENST00000684998.1:n.2676_2677insAA
ENST00000687027.1:c.1010_1011insAA	ENSP00000508715.1:p.Tyr337Ter
ENST00000687863.1:n.3499_3500insAA
ENST00000691014.1:c.6884_6885insAA	ENSP00000510595.1:p.Tyr2295Ter
ENST00000693617.1:c.1418_1419insAA	ENSP00000510031.1:p.Tyr473Ter
ENST00000358273.9:c.6854_6855insAA MANE Select	ENSP00000351015.4:p.Tyr2285Ter
ENST00000356175.7:c.6791_6792insAA	ENSP00000348498.3:p.Tyr2264Ter
ENST00000358273.8:c.6854_6855insAA	ENSP00000351015.4:p.Tyr2285Ter
ENST00000456735.6:c.5789_5790insAA	ENSP00000389907.2:p.Tyr1930Ter
ENST00000471572.6:c.237_238insAA
ENST00000579081.5:c.6990_6991insAA	ENSP00000462408.1:n.6990_6991insAA
ENST00000581790.5:c.64+858_64+859insAA
ENST00000584328.1:n.268_269insAA
NM_000267.3:c.6791_6792insAA , LRG_214t1:c.6791_6792insAA	NP_000258.1:p.Tyr2264Ter
NM_001042492.2:c.6854_6855insAA , LRG_214t2:c.6854_6855insAA	NP_001035957.1:p.Tyr2285Ter
XM_005257983.1:c.6854_6855insAA	XP_005258040.1:p.Tyr2285Ter
XM_005257984.1:c.6791_6792insAA	XP_005258041.1:p.Tyr2264Ter
XM_006721922.1:c.6884_6885insAA	XP_006721985.1:p.Tyr2295Ter
XM_006721923.2:c.6845_6846insAA	XP_006721986.1:p.Tyr2282Ter
XM_006721924.1:c.6884_6885insAA	XP_006721987.1:p.Tyr2295Ter
XM_006721925.1:c.6821_6822insAA	XP_006721988.1:p.Tyr2274Ter
XM_006721926.2:c.6884_6885insAA	XP_006721989.1:p.Tyr2295Ter
XM_006721927.1:c.6884_6885insAA	XP_006721990.1:p.Tyr2295Ter
XM_011524852.1:c.6881_6882insAA	XP_011523154.1:p.Tyr2294Ter
XM_011524853.1:c.6845_6846insAA	XP_011523155.1:p.Tyr2282Ter
XM_011524854.1:c.6845_6846insAA	XP_011523156.1:p.Tyr2282Ter
XM_011524855.1:c.6845_6846insAA	XP_011523157.1:p.Tyr2282Ter
XM_011524856.1:c.6845_6846insAA	XP_011523158.1:p.Tyr2282Ter
XM_011524857.1:c.6884_6885insAA	XP_011523159.1:p.Tyr2295Ter
NM_001042492.3:c.6854_6855insAA MANE Select	NP_001035957.1:p.Tyr2285Ter