Canonical Allele Identifier: CA2499224203

Gene: NF1

Linked Data

• ClinVar Variation Id: 1138523
• ClinVar RCV Id: RCV001474894
• dbSNP Id: rs2151559456

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338815_31338816del , CM000679.2:g.31338815_31338816del	GRCh38
NC_000017.10:g.29665833_29665834del , CM000679.1:g.29665833_29665834del	GRCh37
NC_000017.9:g.26689959_26689960del	NCBI36
NG_009018.1:g.248839_248840del , LRG_214:g.248839_248840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6903+10_6903+11del	ENSP00000512431.1:n.6903+10_6903+11del
ENST00000684826.1:c.1485+10_1485+11del	ENSP00000509994.1:n.1485+10_1485+11del
ENST00000684998.1:n.2753_2754del
ENST00000687027.1:c.1077+10_1077+11del	ENSP00000508715.1:n.1077+10_1077+11del
ENST00000687863.1:n.3566+10_3566+11del
ENST00000691014.1:c.6951+10_6951+11del	ENSP00000510595.1:n.6951+10_6951+11del
ENST00000693617.1:c.1485+10_1485+11del	ENSP00000510031.1:n.1485+10_1485+11del
ENST00000358273.9:c.6921+10_6921+11del MANE Select	ENSP00000351015.4:n.6921+10_6921+11del
ENST00000356175.7:c.6858+10_6858+11del	ENSP00000348498.3:n.6858+10_6858+11del
ENST00000358273.8:c.6921+10_6921+11del	ENSP00000351015.4:n.6921+10_6921+11del
ENST00000456735.6:c.5856+10_5856+11del	ENSP00000389907.2:n.5856+10_5856+11del
ENST00000471572.6:c.304+10_304+11del
ENST00000579081.5:c.7057+10_7057+11del	ENSP00000462408.1:n.7057+10_7057+11del
ENST00000581790.5:c.64+935_64+936del
ENST00000584328.1:n.335+10_335+11del
NM_000267.3:c.6858+10_6858+11del , LRG_214t1:c.6858+10_6858+11del	NP_000258.1:n.6858+10_6858+11del
NM_001042492.2:c.6921+10_6921+11del , LRG_214t2:c.6921+10_6921+11del	NP_001035957.1:n.6921+10_6921+11del
XM_005257983.1:c.6921+10_6921+11del	XP_005258040.1:n.6921+10_6921+11del
XM_005257984.1:c.6858+10_6858+11del	XP_005258041.1:n.6858+10_6858+11del
XM_006721922.1:c.6951+10_6951+11del	XP_006721985.1:n.6951+10_6951+11del
XM_006721923.2:c.6912+10_6912+11del	XP_006721986.1:n.6912+10_6912+11del
XM_006721924.1:c.6951+10_6951+11del	XP_006721987.1:n.6951+10_6951+11del
XM_006721925.1:c.6888+10_6888+11del	XP_006721988.1:n.6888+10_6888+11del
XM_006721926.2:c.6951+10_6951+11del	XP_006721989.1:n.6951+10_6951+11del
XM_006721927.1:c.6951+10_6951+11del	XP_006721990.1:n.6951+10_6951+11del
XM_011524852.1:c.6948+10_6948+11del	XP_011523154.1:n.6948+10_6948+11del
XM_011524853.1:c.6912+10_6912+11del	XP_011523155.1:n.6912+10_6912+11del
XM_011524854.1:c.6912+10_6912+11del	XP_011523156.1:n.6912+10_6912+11del
XM_011524855.1:c.6912+10_6912+11del	XP_011523157.1:n.6912+10_6912+11del
XM_011524856.1:c.6912+10_6912+11del	XP_011523158.1:n.6912+10_6912+11del
XM_011524857.1:c.6951+10_6951+11del	XP_011523159.1:n.6951+10_6951+11del
NM_001042492.3:c.6921+10_6921+11del MANE Select	NP_001035957.1:n.6921+10_6921+11del