Canonical Allele Identifier: CA658658598

Gene: NF1

Linked Data

• ClinVar Variation Id: 481903
• ClinVar RCV Id: RCV000563691
• dbSNP Id: rs1555535416
• MyVariant Identifiers: chr17:g.29670074_29670075del (hg19) ; chr17:g.31343056_31343057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343056_31343057del , CM000679.2:g.31343056_31343057del	GRCh38
NC_000017.10:g.29670074_29670075del , CM000679.1:g.29670074_29670075del	GRCh37
NC_000017.9:g.26694200_26694201del	NCBI36
NG_009018.1:g.253080_253081del , LRG_214:g.253080_253081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7092_7093del	ENSP00000512431.1:p.His2364GlnfsTer15
ENST00000684826.1:c.1674_1675del	ENSP00000509994.1:p.His558GlnfsTer15
ENST00000687027.1:c.1266_1267del	ENSP00000508715.1:p.His422GlnfsTer15
ENST00000687863.1:n.3755_3756del
ENST00000689464.1:c.49_50del
ENST00000691014.1:c.7140_7141del	ENSP00000510595.1:p.His2380GlnfsTer15
ENST00000693617.1:c.1674_1675del	ENSP00000510031.1:p.His558GlnfsTer15
ENST00000358273.9:c.7110_7111del MANE Select	ENSP00000351015.4:p.His2370GlnfsTer15
ENST00000356175.7:c.7047_7048del	ENSP00000348498.3:p.His2349GlnfsTer15
ENST00000358273.8:c.7110_7111del	ENSP00000351015.4:p.His2370GlnfsTer15
ENST00000456735.6:c.6045_6046del	ENSP00000389907.2:p.His2015GlnfsTer15
ENST00000471572.6:c.493_494del
ENST00000579081.5:c.7246_7247del	ENSP00000462408.1:n.7246_7247del
ENST00000581790.5:c.253_254del
ENST00000582892.1:n.352_353del
ENST00000584328.1:n.524_525del
NM_000267.3:c.7047_7048del , LRG_214t1:c.7047_7048del	NP_000258.1:p.His2349GlnfsTer15
NM_001042492.2:c.7110_7111del , LRG_214t2:c.7110_7111del	NP_001035957.1:p.His2370GlnfsTer15
XM_005257983.1:c.7110_7111del	XP_005258040.1:p.His2370GlnfsTer15
XM_005257984.1:c.7047_7048del	XP_005258041.1:p.His2349GlnfsTer15
XM_006721922.1:c.7140_7141del	XP_006721985.1:p.His2380GlnfsTer15
XM_006721923.2:c.7101_7102del	XP_006721986.1:p.His2367GlnfsTer15
XM_006721924.1:c.7140_7141del	XP_006721987.1:p.His2380GlnfsTer15
XM_006721925.1:c.7077_7078del	XP_006721988.1:p.His2359GlnfsTer15
XM_006721926.2:c.7140_7141del	XP_006721989.1:p.His2380GlnfsTer15
XM_006721927.1:c.7140_7141del	XP_006721990.1:p.His2380GlnfsTer15
XM_011524852.1:c.7137_7138del	XP_011523154.1:p.His2379GlnfsTer15
XM_011524853.1:c.7101_7102del	XP_011523155.1:p.His2367GlnfsTer15
XM_011524854.1:c.7101_7102del	XP_011523156.1:p.His2367GlnfsTer15
XM_011524855.1:c.7101_7102del	XP_011523157.1:p.His2367GlnfsTer15
XM_011524856.1:c.7101_7102del	XP_011523158.1:p.His2367GlnfsTer15
XM_011524857.1:c.7140_7141del	XP_011523159.1:p.His2380GlnfsTer15
NM_001042492.3:c.7110_7111del MANE Select	NP_001035957.1:p.His2370GlnfsTer15