Canonical Allele Identifier: CA658658592

Gene: NF1

Linked Data

• ClinVar Variation Id: 484074
• ClinVar RCV Id: RCV002317234
• dbSNP Id: rs1555535044
• MyVariant Identifiers: chr17:g.29665760_29665761del (hg19) ; chr17:g.31338742_31338743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338742_31338743del , CM000679.2:g.31338742_31338743del	GRCh38
NC_000017.10:g.29665760_29665761del , CM000679.1:g.29665760_29665761del	GRCh37
NC_000017.9:g.26689886_26689887del	NCBI36
NG_009018.1:g.248766_248767del , LRG_214:g.248766_248767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6840_6841del	ENSP00000512431.1:p.Asn2280LysfsTer20
ENST00000684826.1:c.1422_1423del	ENSP00000509994.1:p.Asn474LysfsTer20
ENST00000684998.1:n.2680_2681del
ENST00000687027.1:c.1014_1015del	ENSP00000508715.1:p.Asn338LysfsTer20
ENST00000687863.1:n.3503_3504del
ENST00000691014.1:c.6888_6889del	ENSP00000510595.1:p.Asn2296LysfsTer20
ENST00000693617.1:c.1422_1423del	ENSP00000510031.1:p.Asn474LysfsTer20
ENST00000358273.9:c.6858_6859del MANE Select	ENSP00000351015.4:p.Asn2286LysfsTer20
ENST00000356175.7:c.6795_6796del	ENSP00000348498.3:p.Asn2265LysfsTer20
ENST00000358273.8:c.6858_6859del	ENSP00000351015.4:p.Asn2286LysfsTer20
ENST00000456735.6:c.5793_5794del	ENSP00000389907.2:p.Asn1931LysfsTer20
ENST00000471572.6:c.241_242del
ENST00000579081.5:c.6994_6995del	ENSP00000462408.1:n.6994_6995del
ENST00000581790.5:c.64+862_64+863del
ENST00000584328.1:n.272_273del
NM_000267.3:c.6795_6796del , LRG_214t1:c.6795_6796del	NP_000258.1:p.Asn2265LysfsTer20
NM_001042492.2:c.6858_6859del , LRG_214t2:c.6858_6859del	NP_001035957.1:p.Asn2286LysfsTer20
XM_005257983.1:c.6858_6859del	XP_005258040.1:p.Asn2286LysfsTer20
XM_005257984.1:c.6795_6796del	XP_005258041.1:p.Asn2265LysfsTer20
XM_006721922.1:c.6888_6889del	XP_006721985.1:p.Asn2296LysfsTer20
XM_006721923.2:c.6849_6850del	XP_006721986.1:p.Asn2283LysfsTer20
XM_006721924.1:c.6888_6889del	XP_006721987.1:p.Asn2296LysfsTer20
XM_006721925.1:c.6825_6826del	XP_006721988.1:p.Asn2275LysfsTer20
XM_006721926.2:c.6888_6889del	XP_006721989.1:p.Asn2296LysfsTer20
XM_006721927.1:c.6888_6889del	XP_006721990.1:p.Asn2296LysfsTer20
XM_011524852.1:c.6885_6886del	XP_011523154.1:p.Asn2295LysfsTer20
XM_011524853.1:c.6849_6850del	XP_011523155.1:p.Asn2283LysfsTer20
XM_011524854.1:c.6849_6850del	XP_011523156.1:p.Asn2283LysfsTer20
XM_011524855.1:c.6849_6850del	XP_011523157.1:p.Asn2283LysfsTer20
XM_011524856.1:c.6849_6850del	XP_011523158.1:p.Asn2283LysfsTer20
XM_011524857.1:c.6888_6889del	XP_011523159.1:p.Asn2296LysfsTer20
NM_001042492.3:c.6858_6859del MANE Select	NP_001035957.1:p.Asn2286LysfsTer20