Canonical Allele Identifier: CA2695225404

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261787_31261790del , CM000679.2:g.31261787_31261790del	GRCh38
NC_000017.10:g.29588805_29588808del , CM000679.1:g.29588805_29588808del	GRCh37
NC_000017.9:g.26612931_26612934del	NCBI36
NG_009018.1:g.171811_171814del , LRG_214:g.171811_171814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.456_459del	ENSP00000492721.2:p.Asn153CysfsTer10
ENST00000696138.1:c.4636_4639del	ENSP00000512431.1:p.Lys1546LeufsTer21
ENST00000696140.1:n.760_763del
ENST00000696141.1:c.645_648del
ENST00000687863.1:n.1299_1302del
ENST00000691014.1:c.4684_4687del	ENSP00000510595.1:p.Lys1562LeufsTer21
ENST00000358273.9:c.4654_4657del MANE Select	ENSP00000351015.4:p.Lys1552LeufsTer21
ENST00000356175.7:c.4591_4594del	ENSP00000348498.3:p.Lys1531LeufsTer21
ENST00000358273.8:c.4654_4657del	ENSP00000351015.4:p.Lys1552LeufsTer21
ENST00000456735.6:c.3589_3592del	ENSP00000389907.2:p.Lys1197LeufsTer21
ENST00000466819.5:c.1170_1173del
ENST00000479614.1:c.1107_1110del
ENST00000493220.5:n.3127_3130del
ENST00000579081.5:c.4693_4696del	ENSP00000462408.1:p.Lys1565LeufsTer21
NM_000267.3:c.4591_4594del , LRG_214t1:c.4591_4594del	NP_000258.1:p.Lys1531LeufsTer21
NM_001042492.2:c.4654_4657del , LRG_214t2:c.4654_4657del	NP_001035957.1:p.Lys1552LeufsTer21
XM_005257983.1:c.4654_4657del	XP_005258040.1:p.Lys1552LeufsTer21
XM_005257984.1:c.4591_4594del	XP_005258041.1:p.Lys1531LeufsTer21
XM_006721922.1:c.4684_4687del	XP_006721985.1:p.Lys1562LeufsTer21
XM_006721923.2:c.4645_4648del	XP_006721986.1:p.Lys1549LeufsTer21
XM_006721924.1:c.4684_4687del	XP_006721987.1:p.Lys1562LeufsTer21
XM_006721925.1:c.4621_4624del	XP_006721988.1:p.Lys1541LeufsTer21
XM_006721926.2:c.4684_4687del	XP_006721989.1:p.Lys1562LeufsTer21
XM_006721927.1:c.4684_4687del	XP_006721990.1:p.Lys1562LeufsTer21
XM_006721928.2:c.4684_4687del	XP_006721991.1:p.Lys1562LeufsTer21
XM_011524852.1:c.4681_4684del	XP_011523154.1:p.Lys1561LeufsTer21
XM_011524853.1:c.4645_4648del	XP_011523155.1:p.Lys1549LeufsTer21
XM_011524854.1:c.4645_4648del	XP_011523156.1:p.Lys1549LeufsTer21
XM_011524855.1:c.4645_4648del	XP_011523157.1:p.Lys1549LeufsTer21
XM_011524856.1:c.4645_4648del	XP_011523158.1:p.Lys1549LeufsTer21
XM_011524857.1:c.4684_4687del	XP_011523159.1:p.Lys1562LeufsTer21
NM_001042492.3:c.4654_4657del MANE Select	NP_001035957.1:p.Lys1552LeufsTer21