Canonical Allele Identifier: CA2695201278

Gene: NF1

Linked Data

• ClinVar Variation Id: 2637222
• ClinVar RCV Id: RCV004554171

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265297_31265311del , CM000679.2:g.31265297_31265311del	GRCh38
NC_000017.10:g.29592315_29592329del , CM000679.1:g.29592315_29592329del	GRCh37
NC_000017.9:g.26616441_26616455del	NCBI36
NG_009018.1:g.175321_175335del , LRG_214:g.175321_175335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.595_609del	ENSP00000492721.2:n.595_609del
ENST00000696138.1:c.4775_4789del	ENSP00000512431.1:p.Thr1592_Gly1596del
ENST00000696140.1:n.899_913del
ENST00000696141.1:c.784_798del
ENST00000687863.1:n.1438_1452del
ENST00000691014.1:c.4823_4837del	ENSP00000510595.1:p.Thr1608_Gly1612del
ENST00000358273.9:c.4793_4807del MANE Select	ENSP00000351015.4:p.Thr1598_Gly1602del
ENST00000356175.7:c.4730_4744del	ENSP00000348498.3:p.Thr1577_Gly1581del
ENST00000358273.8:c.4793_4807del	ENSP00000351015.4:p.Thr1598_Gly1602del
ENST00000456735.6:c.3728_3742del	ENSP00000389907.2:p.Thr1243_Gly1247del
ENST00000493220.5:n.3266_3280del
ENST00000579081.5:c.4832_4846del	ENSP00000462408.1:p.Thr1611_Gly1615del
NM_000267.3:c.4730_4744del , LRG_214t1:c.4730_4744del	NP_000258.1:p.Thr1577_Gly1581del
NM_001042492.2:c.4793_4807del , LRG_214t2:c.4793_4807del	NP_001035957.1:p.Thr1598_Gly1602del
XM_005257983.1:c.4793_4807del	XP_005258040.1:p.Thr1598_Gly1602del
XM_005257984.1:c.4730_4744del	XP_005258041.1:p.Thr1577_Gly1581del
XM_006721922.1:c.4823_4837del	XP_006721985.1:p.Thr1608_Gly1612del
XM_006721923.2:c.4784_4798del	XP_006721986.1:p.Thr1595_Gly1599del
XM_006721924.1:c.4823_4837del	XP_006721987.1:p.Thr1608_Gly1612del
XM_006721925.1:c.4760_4774del	XP_006721988.1:p.Thr1587_Gly1591del
XM_006721926.2:c.4823_4837del	XP_006721989.1:p.Thr1608_Gly1612del
XM_006721927.1:c.4823_4837del	XP_006721990.1:p.Thr1608_Gly1612del
XM_006721928.2:c.4823_4837del	XP_006721991.1:p.Thr1608_Gly1612del
XM_011524852.1:c.4820_4834del	XP_011523154.1:p.Thr1607_Gly1611del
XM_011524853.1:c.4784_4798del	XP_011523155.1:p.Thr1595_Gly1599del
XM_011524854.1:c.4784_4798del	XP_011523156.1:p.Thr1595_Gly1599del
XM_011524855.1:c.4784_4798del	XP_011523157.1:p.Thr1595_Gly1599del
XM_011524856.1:c.4784_4798del	XP_011523158.1:p.Thr1595_Gly1599del
XM_011524857.1:c.4823_4837del	XP_011523159.1:p.Thr1608_Gly1612del
NM_001042492.3:c.4793_4807del MANE Select	NP_001035957.1:p.Thr1598_Gly1602del