Canonical Allele Identifier: CA2695225254

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223428_31223449del , CM000679.2:g.31223428_31223449del	GRCh38
NC_000017.10:g.29550446_29550467del , CM000679.1:g.29550446_29550467del	GRCh37
NC_000017.9:g.26574572_26574593del	NCBI36
NG_009018.1:g.133452_133473del , LRG_214:g.133452_133473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1767-16_1772del
ENST00000691014.1:c.1752-16_1757del
ENST00000358273.9:c.1722-16_1727del
ENST00000356175.7:c.1722-16_1727del
ENST00000358273.8:c.1722-16_1727del
ENST00000456735.6:c.720-16_725del
ENST00000495910.6:c.1497-16_1502del
ENST00000579081.5:c.1824-16_1829del
NM_000267.3:c.1722-16_1727del , LRG_214t1:c.1722-16_1727del
NM_001042492.2:c.1722-16_1727del , LRG_214t2:c.1722-16_1727del
XM_005257983.1:c.1722-16_1727del
XM_005257984.1:c.1722-16_1727del
XM_006721922.1:c.1752-16_1757del
XM_006721923.2:c.1713-16_1718del
XM_006721924.1:c.1752-16_1757del
XM_006721925.1:c.1752-16_1757del
XM_006721926.2:c.1752-16_1757del
XM_006721927.1:c.1752-16_1757del
XM_006721928.2:c.1752-16_1757del
XM_011524852.1:c.1752-16_1757del
XM_011524853.1:c.1713-16_1718del
XM_011524854.1:c.1713-16_1718del
XM_011524855.1:c.1713-16_1718del
XM_011524856.1:c.1713-16_1718del
XM_011524857.1:c.1752-16_1757del
NM_001042492.3:c.1722-16_1727del