Canonical Allele Identifier: CA2573153881

Gene: NF1

Linked Data

• ClinVar Variation Id: 1497211
• ClinVar RCV Id: RCV002019768
• dbSNP Id: rs2151559419

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338808_31338869dup , CM000679.2:g.31338808_31338869dup	GRCh38
NC_000017.10:g.29665826_29665887dup , CM000679.1:g.29665826_29665887dup	GRCh37
NC_000017.9:g.26689952_26690013dup	NCBI36
NG_009018.1:g.248832_248893dup , LRG_214:g.248832_248893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6903+3_6903+64dup	ENSP00000512431.1:n.6903+3_6903+64dup
ENST00000684826.1:c.1485+3_1485+64dup	ENSP00000509994.1:n.1485+3_1485+64dup
ENST00000684998.1:n.2746_2807dup
ENST00000687027.1:c.1077+3_1077+64dup	ENSP00000508715.1:n.1077+3_1077+64dup
ENST00000687863.1:n.3566+3_3566+64dup
ENST00000691014.1:c.6951+3_6951+64dup	ENSP00000510595.1:n.6951+3_6951+64dup
ENST00000693617.1:c.1485+3_1485+64dup	ENSP00000510031.1:n.1485+3_1485+64dup
ENST00000358273.9:c.6921+3_6921+64dup MANE Select	ENSP00000351015.4:n.6921+3_6921+64dup
ENST00000356175.7:c.6858+3_6858+64dup	ENSP00000348498.3:n.6858+3_6858+64dup
ENST00000358273.8:c.6921+3_6921+64dup	ENSP00000351015.4:n.6921+3_6921+64dup
ENST00000456735.6:c.5856+3_5856+64dup	ENSP00000389907.2:n.5856+3_5856+64dup
ENST00000471572.6:c.304+3_304+64dup
ENST00000579081.5:c.7057+3_7057+64dup	ENSP00000462408.1:n.7057+3_7057+64dup
ENST00000581790.5:c.64+928_64+989dup
ENST00000584328.1:n.335+3_335+64dup
NM_000267.3:c.6858+3_6858+64dup , LRG_214t1:c.6858+3_6858+64dup	NP_000258.1:n.6858+3_6858+64dup
NM_001042492.2:c.6921+3_6921+64dup , LRG_214t2:c.6921+3_6921+64dup	NP_001035957.1:n.6921+3_6921+64dup
XM_005257983.1:c.6921+3_6921+64dup	XP_005258040.1:n.6921+3_6921+64dup
XM_005257984.1:c.6858+3_6858+64dup	XP_005258041.1:n.6858+3_6858+64dup
XM_006721922.1:c.6951+3_6951+64dup	XP_006721985.1:n.6951+3_6951+64dup
XM_006721923.2:c.6912+3_6912+64dup	XP_006721986.1:n.6912+3_6912+64dup
XM_006721924.1:c.6951+3_6951+64dup	XP_006721987.1:n.6951+3_6951+64dup
XM_006721925.1:c.6888+3_6888+64dup	XP_006721988.1:n.6888+3_6888+64dup
XM_006721926.2:c.6951+3_6951+64dup	XP_006721989.1:n.6951+3_6951+64dup
XM_006721927.1:c.6951+3_6951+64dup	XP_006721990.1:n.6951+3_6951+64dup
XM_011524852.1:c.6948+3_6948+64dup	XP_011523154.1:n.6948+3_6948+64dup
XM_011524853.1:c.6912+3_6912+64dup	XP_011523155.1:n.6912+3_6912+64dup
XM_011524854.1:c.6912+3_6912+64dup	XP_011523156.1:n.6912+3_6912+64dup
XM_011524855.1:c.6912+3_6912+64dup	XP_011523157.1:n.6912+3_6912+64dup
XM_011524856.1:c.6912+3_6912+64dup	XP_011523158.1:n.6912+3_6912+64dup
XM_011524857.1:c.6951+3_6951+64dup	XP_011523159.1:n.6951+3_6951+64dup
NM_001042492.3:c.6921+3_6921+64dup MANE Select	NP_001035957.1:n.6921+3_6921+64dup