Canonical Allele Identifier: CA2580092762

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31095308_31095312del , CM000679.2:g.31095308_31095312del	GRCh38
NC_000017.10:g.29422326_29422330del , CM000679.1:g.29422326_29422330del	GRCh37
NC_000017.9:g.26446452_26446456del	NCBI36
NG_009018.1:g.5332_5336del , LRG_214:g.5332_5336del

Transcript Alleles

HGVS	Amino-acid Change
NM_000267.3:c.-2_3del , LRG_214t1:c.-2_3del
NM_001042492.2:c.-2_3del , LRG_214t2:c.-2_3del
NM_001042492.3:c.-2_3del
NM_001128147.2:c.-2_3del
NM_001128147.3:c.-2_3del
ENST00000356175.7:c.-2_3del
ENST00000358273.8:c.-2_3del
ENST00000358273.9:c.-2_3del
ENST00000431387.8:c.-2_3del
ENST00000487476.5:n.382_386del
ENST00000579081.5:c.101_105del	ENSP00000462408.1:p.Asp34GlyfsTer?
ENST00000691014.1:c.-2_3del
ENST00000696138.1:c.-2_3del
XM_005257983.1:c.-2_3del
XM_005257984.1:c.-2_3del
XM_006721922.1:c.-2_3del
XM_006721923.2:c.21+23259_21+23263del	XP_006721986.1:n.21+23259_21+23263del
XM_006721924.1:c.-2_3del
XM_006721925.1:c.-2_3del
XM_006721926.2:c.-2_3del
XM_006721927.1:c.-2_3del
XM_006721928.2:c.-2_3del
XM_011524852.1:c.-2_3del
XM_011524853.1:c.21+23259_21+23263del	XP_011523155.1:n.21+23259_21+23263del
XM_011524854.1:c.21+23259_21+23263del	XP_011523156.1:n.21+23259_21+23263del
XM_011524855.1:c.21+23259_21+23263del	XP_011523157.1:n.21+23259_21+23263del
XM_011524856.1:c.21+23259_21+23263del	XP_011523158.1:n.21+23259_21+23263del
XM_011524857.1:c.-2_3del