Canonical Allele Identifier: CA915949797

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31326029_31326030del , CM000679.2:g.31326029_31326030del	GRCh38
NC_000017.10:g.29653047_29653048del , CM000679.1:g.29653047_29653048del	GRCh37
NC_000017.9:g.26677173_26677174del	NCBI36
NG_009018.1:g.236053_236054del , LRG_214:g.236053_236054del

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5045_5046del MANE Select	NP_001035957.1:p.Cys1682Ter
ENST00000358273.9:c.5045_5046del MANE Select	ENSP00000351015.4:p.Cys1682Ter
NM_000267.3:c.4982_4983del , LRG_214t1:c.4982_4983del	NP_000258.1:p.Cys1661Ter
NM_001042492.2:c.5045_5046del , LRG_214t2:c.5045_5046del	NP_001035957.1:p.Cys1682Ter
ENST00000356175.7:c.4982_4983del	ENSP00000348498.3:p.Cys1661Ter
ENST00000358273.8:c.5045_5046del	ENSP00000351015.4:p.Cys1682Ter
ENST00000456735.6:c.3980_3981del	ENSP00000389907.2:p.Cys1327Ter
ENST00000493220.5:n.3518_3519del
ENST00000579081.5:c.5181_5182del	ENSP00000462408.1:n.5181_5182del
ENST00000581113.6:n.362_363del
ENST00000581113.7:c.1233_1234del	ENSP00000492721.2:n.1233_1234del
ENST00000684826.1:c.-392_-391del	ENSP00000509994.1:n.-392_-391del
ENST00000687027.1:c.-459_-458del	ENSP00000508715.1:n.-459_-458del
ENST00000687863.1:n.1690_1691del
ENST00000691014.1:c.5075_5076del	ENSP00000510595.1:p.Cys1692Ter
ENST00000693617.1:c.-392_-391del	ENSP00000510031.1:n.-392_-391del
ENST00000696138.1:c.5027_5028del	ENSP00000512431.1:p.Cys1676Ter
XM_005257983.1:c.5045_5046del	XP_005258040.1:p.Cys1682Ter
XM_005257984.1:c.4982_4983del	XP_005258041.1:p.Cys1661Ter
XM_006721922.1:c.5075_5076del	XP_006721985.1:p.Cys1692Ter
XM_006721923.2:c.5036_5037del	XP_006721986.1:p.Cys1679Ter
XM_006721924.1:c.5075_5076del	XP_006721987.1:p.Cys1692Ter
XM_006721925.1:c.5012_5013del	XP_006721988.1:p.Cys1671Ter
XM_006721926.2:c.5075_5076del	XP_006721989.1:p.Cys1692Ter
XM_006721927.1:c.5075_5076del	XP_006721990.1:p.Cys1692Ter
XM_011524852.1:c.5072_5073del	XP_011523154.1:p.Cys1691Ter
XM_011524853.1:c.5036_5037del	XP_011523155.1:p.Cys1679Ter
XM_011524854.1:c.5036_5037del	XP_011523156.1:p.Cys1679Ter
XM_011524855.1:c.5036_5037del	XP_011523157.1:p.Cys1679Ter
XM_011524856.1:c.5036_5037del	XP_011523158.1:p.Cys1679Ter
XM_011524857.1:c.5075_5076del	XP_011523159.1:p.Cys1692Ter