Canonical Allele Identifier: CA2582342162

Gene: NF1

Linked Data

• ClinVar Variation Id: 2627606
• ClinVar RCV Id: RCV003388896

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343097_31343098insG , CM000679.2:g.31343097_31343098insG	GRCh38
NC_000017.10:g.29670115_29670116insG , CM000679.1:g.29670115_29670116insG	GRCh37
NC_000017.9:g.26694241_26694242insG	NCBI36
NG_009018.1:g.253121_253122insG , LRG_214:g.253121_253122insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7133_7134insG	ENSP00000512431.1:p.Asn2379Ter
ENST00000684826.1:c.1715_1716insG	ENSP00000509994.1:p.Asn573Ter
ENST00000687027.1:c.1307_1308insG	ENSP00000508715.1:p.Asn437Ter
ENST00000687863.1:n.3796_3797insG
ENST00000689464.1:c.90_91insG
ENST00000691014.1:c.7181_7182insG	ENSP00000510595.1:p.Asn2395Ter
ENST00000693617.1:c.1715_1716insG	ENSP00000510031.1:p.Asn573Ter
ENST00000358273.9:c.7151_7152insG MANE Select	ENSP00000351015.4:p.Asn2385Ter
ENST00000356175.7:c.7088_7089insG	ENSP00000348498.3:p.Asn2364Ter
ENST00000358273.8:c.7151_7152insG	ENSP00000351015.4:p.Asn2385Ter
ENST00000456735.6:c.6086_6087insG	ENSP00000389907.2:p.Asn2030Ter
ENST00000471572.6:c.534_535insG
ENST00000579081.5:c.7287_7288insG	ENSP00000462408.1:n.7287_7288insG
ENST00000581790.5:c.294_295insG
ENST00000582892.1:n.393_394insG
ENST00000584328.1:n.565_566insG
NM_000267.3:c.7088_7089insG , LRG_214t1:c.7088_7089insG	NP_000258.1:p.Asn2364Ter
NM_001042492.2:c.7151_7152insG , LRG_214t2:c.7151_7152insG	NP_001035957.1:p.Asn2385Ter
XM_005257983.1:c.7151_7152insG	XP_005258040.1:p.Asn2385Ter
XM_005257984.1:c.7088_7089insG	XP_005258041.1:p.Asn2364Ter
XM_006721922.1:c.7181_7182insG	XP_006721985.1:p.Asn2395Ter
XM_006721923.2:c.7142_7143insG	XP_006721986.1:p.Asn2382Ter
XM_006721924.1:c.7181_7182insG	XP_006721987.1:p.Asn2395Ter
XM_006721925.1:c.7118_7119insG	XP_006721988.1:p.Asn2374Ter
XM_006721926.2:c.7181_7182insG	XP_006721989.1:p.Asn2395Ter
XM_006721927.1:c.7181_7182insG	XP_006721990.1:p.Asn2395Ter
XM_011524852.1:c.7178_7179insG	XP_011523154.1:p.Asn2394Ter
XM_011524853.1:c.7142_7143insG	XP_011523155.1:p.Asn2382Ter
XM_011524854.1:c.7142_7143insG	XP_011523156.1:p.Asn2382Ter
XM_011524855.1:c.7142_7143insG	XP_011523157.1:p.Asn2382Ter
XM_011524856.1:c.7142_7143insG	XP_011523158.1:p.Asn2382Ter
XM_011524857.1:c.7181_7182insG	XP_011523159.1:p.Asn2395Ter
NM_001042492.3:c.7151_7152insG MANE Select	NP_001035957.1:p.Asn2385Ter