Canonical Allele Identifier: CA2695225671

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258951_31259135del , CM000679.2:g.31258951_31259135del	GRCh38
NC_000017.10:g.29585969_29586153del , CM000679.1:g.29585969_29586153del	GRCh37
NC_000017.9:g.26610095_26610279del	NCBI36
NG_009018.1:g.168975_169159del , LRG_214:g.168975_169159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.121-81_218+6del
ENST00000696138.1:c.4315-81_4412+6del
ENST00000696140.1:n.439-81_536+6del
ENST00000696141.1:c.324-81_421+6del
ENST00000687863.1:n.978-81_1075+6del
ENST00000691014.1:c.4363-81_4460+6del
ENST00000691649.1:n.305-81_408del
ENST00000358273.9:c.4333-81_4430+6del
ENST00000356175.7:c.4270-81_4367+6del
ENST00000358273.8:c.4333-81_4430+6del
ENST00000456735.6:c.3268-81_3365+6del
ENST00000466819.5:c.849-81_946+6del
ENST00000479614.1:c.786-81_883+6del
ENST00000493220.5:n.2806-81_2903+6del
ENST00000579081.5:c.4372-81_4469+6del
NM_000267.3:c.4270-81_4367+6del , LRG_214t1:c.4270-81_4367+6del
NM_001042492.2:c.4333-81_4430+6del , LRG_214t2:c.4333-81_4430+6del
XM_005257983.1:c.4333-81_4430+6del
XM_005257984.1:c.4270-81_4367+6del
XM_006721922.1:c.4363-81_4460+6del
XM_006721923.2:c.4324-81_4421+6del
XM_006721924.1:c.4363-81_4460+6del
XM_006721925.1:c.4300-81_4397+6del
XM_006721926.2:c.4363-81_4460+6del
XM_006721927.1:c.4363-81_4460+6del
XM_006721928.2:c.4363-81_4460+6del
XM_011524852.1:c.4360-81_4457+6del
XM_011524853.1:c.4324-81_4421+6del
XM_011524854.1:c.4324-81_4421+6del
XM_011524855.1:c.4324-81_4421+6del
XM_011524856.1:c.4324-81_4421+6del
XM_011524857.1:c.4363-81_4460+6del
NM_001042492.3:c.4333-81_4430+6del