Canonical Allele Identifier: CA891844406

Gene: NF1

Linked Data

• ClinVar Variation Id: 579219
• ClinVar RCV Id: RCV000702448
• dbSNP Id: rs1567617849
• MyVariant Identifiers: chr17:g.29665060dup (hg19) ; chr17:g.31338042dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338042dup , CM000679.2:g.31338042dup	GRCh38
NC_000017.10:g.29665060dup , CM000679.1:g.29665060dup	GRCh37
NC_000017.9:g.26689186dup	NCBI36
NG_009018.1:g.248066dup , LRG_214:g.248066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6704dup	ENSP00000512431.1:p.Asn2235LysfsTer16
ENST00000684826.1:c.1286dup	ENSP00000509994.1:p.Asn429LysfsTer16
ENST00000684998.1:n.1980dup
ENST00000687027.1:c.878dup	ENSP00000508715.1:p.Asn293LysfsTer16
ENST00000687863.1:n.3367dup
ENST00000691014.1:c.6752dup	ENSP00000510595.1:p.Asn2251LysfsTer16
ENST00000693617.1:c.1286dup	ENSP00000510031.1:p.Asn429LysfsTer16
ENST00000358273.9:c.6722dup MANE Select	ENSP00000351015.4:p.Asn2241LysfsTer16
ENST00000356175.7:c.6659dup	ENSP00000348498.3:p.Asn2220LysfsTer16
ENST00000358273.8:c.6722dup	ENSP00000351015.4:p.Asn2241LysfsTer16
ENST00000456735.6:c.5657dup	ENSP00000389907.2:p.Asn1886LysfsTer16
ENST00000471572.6:c.105dup
ENST00000579081.5:c.6858dup	ENSP00000462408.1:n.6858dup
ENST00000581790.5:c.64+162dup
ENST00000584328.1:n.136dup
NM_000267.3:c.6659dup , LRG_214t1:c.6659dup	NP_000258.1:p.Asn2220LysfsTer16
NM_001042492.2:c.6722dup , LRG_214t2:c.6722dup	NP_001035957.1:p.Asn2241LysfsTer16
XM_005257983.1:c.6722dup	XP_005258040.1:p.Asn2241LysfsTer16
XM_005257984.1:c.6659dup	XP_005258041.1:p.Asn2220LysfsTer16
XM_006721922.1:c.6752dup	XP_006721985.1:p.Asn2251LysfsTer16
XM_006721923.2:c.6713dup	XP_006721986.1:p.Asn2238LysfsTer16
XM_006721924.1:c.6752dup	XP_006721987.1:p.Asn2251LysfsTer16
XM_006721925.1:c.6689dup	XP_006721988.1:p.Asn2230LysfsTer16
XM_006721926.2:c.6752dup	XP_006721989.1:p.Asn2251LysfsTer16
XM_006721927.1:c.6752dup	XP_006721990.1:p.Asn2251LysfsTer16
XM_011524852.1:c.6749dup	XP_011523154.1:p.Asn2250LysfsTer16
XM_011524853.1:c.6713dup	XP_011523155.1:p.Asn2238LysfsTer16
XM_011524854.1:c.6713dup	XP_011523156.1:p.Asn2238LysfsTer16
XM_011524855.1:c.6713dup	XP_011523157.1:p.Asn2238LysfsTer16
XM_011524856.1:c.6713dup	XP_011523158.1:p.Asn2238LysfsTer16
XM_011524857.1:c.6752dup	XP_011523159.1:p.Asn2251LysfsTer16
NM_001042492.3:c.6722dup MANE Select	NP_001035957.1:p.Asn2241LysfsTer16