Canonical Allele Identifier: CA658761008

Gene: NF1

Linked Data

• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343093_31343094insGA , CM000679.2:g.31343093_31343094insGA	GRCh38
NC_000017.10:g.29670111_29670112insGA , CM000679.1:g.29670111_29670112insGA	GRCh37
NC_000017.9:g.26694237_26694238insGA	NCBI36
NG_009018.1:g.253117_253118insGA , LRG_214:g.253117_253118insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7129_7130insGA	ENSP00000512431.1:p.Asn2377ArgfsTer14
ENST00000684826.1:c.1711_1712insGA	ENSP00000509994.1:p.Asn571ArgfsTer14
ENST00000687027.1:c.1303_1304insGA	ENSP00000508715.1:p.Asn435ArgfsTer14
ENST00000687863.1:n.3792_3793insGA
ENST00000689464.1:c.86_87insGA
ENST00000691014.1:c.7177_7178insGA	ENSP00000510595.1:p.Asn2393ArgfsTer14
ENST00000693617.1:c.1711_1712insGA	ENSP00000510031.1:p.Asn571ArgfsTer14
ENST00000358273.9:c.7147_7148insGA MANE Select	ENSP00000351015.4:p.Asn2383ArgfsTer14
ENST00000356175.7:c.7084_7085insGA	ENSP00000348498.3:p.Asn2362ArgfsTer14
ENST00000358273.8:c.7147_7148insGA	ENSP00000351015.4:p.Asn2383ArgfsTer14
ENST00000456735.6:c.6082_6083insGA	ENSP00000389907.2:p.Asn2028ArgfsTer14
ENST00000471572.6:c.530_531insGA
ENST00000579081.5:c.7283_7284insGA	ENSP00000462408.1:n.7283_7284insGA
ENST00000581790.5:c.290_291insGA
ENST00000582892.1:n.389_390insGA
ENST00000584328.1:n.561_562insGA
NM_000267.3:c.7084_7085insGA , LRG_214t1:c.7084_7085insGA	NP_000258.1:p.Asn2362ArgfsTer14
NM_001042492.2:c.7147_7148insGA , LRG_214t2:c.7147_7148insGA	NP_001035957.1:p.Asn2383ArgfsTer14
XM_005257983.1:c.7147_7148insGA	XP_005258040.1:p.Asn2383ArgfsTer14
XM_005257984.1:c.7084_7085insGA	XP_005258041.1:p.Asn2362ArgfsTer14
XM_006721922.1:c.7177_7178insGA	XP_006721985.1:p.Asn2393ArgfsTer14
XM_006721923.2:c.7138_7139insGA	XP_006721986.1:p.Asn2380ArgfsTer14
XM_006721924.1:c.7177_7178insGA	XP_006721987.1:p.Asn2393ArgfsTer14
XM_006721925.1:c.7114_7115insGA	XP_006721988.1:p.Asn2372ArgfsTer14
XM_006721926.2:c.7177_7178insGA	XP_006721989.1:p.Asn2393ArgfsTer14
XM_006721927.1:c.7177_7178insGA	XP_006721990.1:p.Asn2393ArgfsTer14
XM_011524852.1:c.7174_7175insGA	XP_011523154.1:p.Asn2392ArgfsTer14
XM_011524853.1:c.7138_7139insGA	XP_011523155.1:p.Asn2380ArgfsTer14
XM_011524854.1:c.7138_7139insGA	XP_011523156.1:p.Asn2380ArgfsTer14
XM_011524855.1:c.7138_7139insGA	XP_011523157.1:p.Asn2380ArgfsTer14
XM_011524856.1:c.7138_7139insGA	XP_011523158.1:p.Asn2380ArgfsTer14
XM_011524857.1:c.7177_7178insGA	XP_011523159.1:p.Asn2393ArgfsTer14
NM_001042492.3:c.7147_7148insGA MANE Select	NP_001035957.1:p.Asn2383ArgfsTer14