Canonical Allele Identifier: CA2695224673

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214486_31214487del , CM000679.2:g.31214486_31214487del	GRCh38
NC_000017.10:g.29541504_29541505del , CM000679.1:g.29541504_29541505del	GRCh37
NC_000017.9:g.26565630_26565631del	NCBI36
NG_009018.1:g.124510_124511del , LRG_214:g.124510_124511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1473_1474del	ENSP00000512431.1:p.Lys491AsnfsTer2
ENST00000686189.1:c.873_874del	ENSP00000509682.1:p.Lys291AsnfsTer2
ENST00000691014.1:c.1458_1459del	ENSP00000510595.1:p.Lys486AsnfsTer2
ENST00000358273.9:c.1428_1429del MANE Select	ENSP00000351015.4:p.Lys476AsnfsTer2
ENST00000356175.7:c.1428_1429del	ENSP00000348498.3:p.Lys476AsnfsTer2
ENST00000358273.8:c.1428_1429del	ENSP00000351015.4:p.Lys476AsnfsTer2
ENST00000431387.8:c.1428_1429del	ENSP00000412921.4:p.Lys476AsnfsTer2
ENST00000456735.6:c.426_427del	ENSP00000389907.2:p.Lys142AsnfsTer2
ENST00000487476.5:n.1811_1812del
ENST00000495910.6:c.1203_1204del
ENST00000579081.5:c.1530_1531del	ENSP00000462408.1:p.Lys510AsnfsTer2
NM_000267.3:c.1428_1429del , LRG_214t1:c.1428_1429del	NP_000258.1:p.Lys476AsnfsTer2
NM_001042492.2:c.1428_1429del , LRG_214t2:c.1428_1429del	NP_001035957.1:p.Lys476AsnfsTer2
NM_001128147.2:c.1428_1429del	NP_001121619.1:p.Lys476AsnfsTer2
XM_005257983.1:c.1428_1429del	XP_005258040.1:p.Lys476AsnfsTer2
XM_005257984.1:c.1428_1429del	XP_005258041.1:p.Lys476AsnfsTer2
XM_006721922.1:c.1458_1459del	XP_006721985.1:p.Lys486AsnfsTer2
XM_006721923.2:c.1419_1420del	XP_006721986.1:p.Lys473AsnfsTer2
XM_006721924.1:c.1458_1459del	XP_006721987.1:p.Lys486AsnfsTer2
XM_006721925.1:c.1458_1459del	XP_006721988.1:p.Lys486AsnfsTer2
XM_006721926.2:c.1458_1459del	XP_006721989.1:p.Lys486AsnfsTer2
XM_006721927.1:c.1458_1459del	XP_006721990.1:p.Lys486AsnfsTer2
XM_006721928.2:c.1458_1459del	XP_006721991.1:p.Lys486AsnfsTer2
XM_011524852.1:c.1458_1459del	XP_011523154.1:p.Lys486AsnfsTer2
XM_011524853.1:c.1419_1420del	XP_011523155.1:p.Lys473AsnfsTer2
XM_011524854.1:c.1419_1420del	XP_011523156.1:p.Lys473AsnfsTer2
XM_011524855.1:c.1419_1420del	XP_011523157.1:p.Lys473AsnfsTer2
XM_011524856.1:c.1419_1420del	XP_011523158.1:p.Lys473AsnfsTer2
XM_011524857.1:c.1458_1459del	XP_011523159.1:p.Lys486AsnfsTer2
NM_001042492.3:c.1428_1429del MANE Select	NP_001035957.1:p.Lys476AsnfsTer2
NM_001128147.3:c.1428_1429del	NP_001121619.1:p.Lys476AsnfsTer2