Canonical Allele Identifier: CA8485786

Gene: NF1

Linked Data

• ClinVar Variation Id: 976085
• ClinVar RCV Id: RCV001253268
• dbSNP Id: rs746149047
• ExAC: 17:29541484 GA / G
• gnomAD v2: 17-29541484-GA-G
• gnomAD v4: 17-31214466-GA-G
• MyVariant Identifiers: chr17:g.29541485del (hg19) ; chr17:g.31214467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214471del , CM000679.2:g.31214471del	GRCh38
NC_000017.10:g.29541489del , CM000679.1:g.29541489del	GRCh37
NC_000017.9:g.26565615del	NCBI36
NG_009018.1:g.124495del , LRG_214:g.124495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1458del	ENSP00000512431.1:p.Val487Ter
ENST00000686189.1:c.858del	ENSP00000509682.1:p.Val287Ter
ENST00000691014.1:c.1443del	ENSP00000510595.1:p.Val482Ter
ENST00000358273.9:c.1413del MANE Select	ENSP00000351015.4:p.Val472Ter
ENST00000356175.7:c.1413del	ENSP00000348498.3:p.Val472Ter
ENST00000358273.8:c.1413del	ENSP00000351015.4:p.Val472Ter
ENST00000431387.8:c.1413del	ENSP00000412921.4:p.Val472Ter
ENST00000456735.6:c.411del	ENSP00000389907.2:p.Val138Ter
ENST00000487476.5:n.1796del
ENST00000495910.6:c.1188del
ENST00000579081.5:c.1515del	ENSP00000462408.1:p.Val506Ter
NM_000267.3:c.1413del , LRG_214t1:c.1413del	NP_000258.1:p.Val472Ter
NM_001042492.2:c.1413del , LRG_214t2:c.1413del	NP_001035957.1:p.Val472Ter
NM_001128147.2:c.1413del	NP_001121619.1:p.Val472Ter
XM_005257983.1:c.1413del	XP_005258040.1:p.Val472Ter
XM_005257984.1:c.1413del	XP_005258041.1:p.Val472Ter
XM_006721922.1:c.1443del	XP_006721985.1:p.Val482Ter
XM_006721923.2:c.1404del	XP_006721986.1:p.Val469Ter
XM_006721924.1:c.1443del	XP_006721987.1:p.Val482Ter
XM_006721925.1:c.1443del	XP_006721988.1:p.Val482Ter
XM_006721926.2:c.1443del	XP_006721989.1:p.Val482Ter
XM_006721927.1:c.1443del	XP_006721990.1:p.Val482Ter
XM_006721928.2:c.1443del	XP_006721991.1:p.Val482Ter
XM_011524852.1:c.1443del	XP_011523154.1:p.Val482Ter
XM_011524853.1:c.1404del	XP_011523155.1:p.Val469Ter
XM_011524854.1:c.1404del	XP_011523156.1:p.Val469Ter
XM_011524855.1:c.1404del	XP_011523157.1:p.Val469Ter
XM_011524856.1:c.1404del	XP_011523158.1:p.Val469Ter
XM_011524857.1:c.1443del	XP_011523159.1:p.Val482Ter
NM_001042492.3:c.1413del MANE Select	NP_001035957.1:p.Val472Ter
NM_001128147.3:c.1413del	NP_001121619.1:p.Val472Ter