Canonical Allele Identifier: CA2580092787

Gene: NF1

Linked Data

• ClinVar Variation Id: 2025402
• ClinVar RCV Id: RCV002880527

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214484_31214488del , CM000679.2:g.31214484_31214488del	GRCh38
NC_000017.10:g.29541502_29541506del , CM000679.1:g.29541502_29541506del	GRCh37
NC_000017.9:g.26565628_26565632del	NCBI36
NG_009018.1:g.124508_124512del , LRG_214:g.124508_124512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1471_1475del	ENSP00000512431.1:p.Lys491Ter
ENST00000686189.1:c.871_875del	ENSP00000509682.1:p.Lys291Ter
ENST00000691014.1:c.1456_1460del	ENSP00000510595.1:p.Lys486Ter
ENST00000358273.9:c.1426_1430del MANE Select	ENSP00000351015.4:p.Lys476Ter
ENST00000356175.7:c.1426_1430del	ENSP00000348498.3:p.Lys476Ter
ENST00000358273.8:c.1426_1430del	ENSP00000351015.4:p.Lys476Ter
ENST00000431387.8:c.1426_1430del	ENSP00000412921.4:p.Lys476Ter
ENST00000456735.6:c.424_428del	ENSP00000389907.2:p.Lys142Ter
ENST00000487476.5:n.1809_1813del
ENST00000495910.6:c.1201_1205del
ENST00000579081.5:c.1528_1532del	ENSP00000462408.1:p.Lys510Ter
NM_000267.3:c.1426_1430del , LRG_214t1:c.1426_1430del	NP_000258.1:p.Lys476Ter
NM_001042492.2:c.1426_1430del , LRG_214t2:c.1426_1430del	NP_001035957.1:p.Lys476Ter
NM_001128147.2:c.1426_1430del	NP_001121619.1:p.Lys476Ter
XM_005257983.1:c.1426_1430del	XP_005258040.1:p.Lys476Ter
XM_005257984.1:c.1426_1430del	XP_005258041.1:p.Lys476Ter
XM_006721922.1:c.1456_1460del	XP_006721985.1:p.Lys486Ter
XM_006721923.2:c.1417_1421del	XP_006721986.1:p.Lys473Ter
XM_006721924.1:c.1456_1460del	XP_006721987.1:p.Lys486Ter
XM_006721925.1:c.1456_1460del	XP_006721988.1:p.Lys486Ter
XM_006721926.2:c.1456_1460del	XP_006721989.1:p.Lys486Ter
XM_006721927.1:c.1456_1460del	XP_006721990.1:p.Lys486Ter
XM_006721928.2:c.1456_1460del	XP_006721991.1:p.Lys486Ter
XM_011524852.1:c.1456_1460del	XP_011523154.1:p.Lys486Ter
XM_011524853.1:c.1417_1421del	XP_011523155.1:p.Lys473Ter
XM_011524854.1:c.1417_1421del	XP_011523156.1:p.Lys473Ter
XM_011524855.1:c.1417_1421del	XP_011523157.1:p.Lys473Ter
XM_011524856.1:c.1417_1421del	XP_011523158.1:p.Lys473Ter
XM_011524857.1:c.1456_1460del	XP_011523159.1:p.Lys486Ter
NM_001042492.3:c.1426_1430del MANE Select	NP_001035957.1:p.Lys476Ter
NM_001128147.3:c.1426_1430del	NP_001121619.1:p.Lys476Ter