Canonical Allele Identifier: CA2255605126

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343119_31343120delinsTG , CM000679.2:g.31343119_31343120delinsTG	GRCh38
NC_000017.10:g.29670137_29670138delinsTG , CM000679.1:g.29670137_29670138delinsTG	GRCh37
NC_000017.9:g.26694263_26694264delinsTG	NCBI36
NG_009018.1:g.253143_253144delinsTG , LRG_214:g.253143_253144delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7155_7156delinsTG	ENSP00000512431.1:p.Val2385=
ENST00000684826.1:c.1737_1738delinsTG	ENSP00000509994.1:p.Val579=
ENST00000687027.1:c.1329_1330delinsTG	ENSP00000508715.1:p.Val443=
ENST00000687863.1:n.3818_3819delinsTG
ENST00000689464.1:c.112_113delinsTG
ENST00000691014.1:c.7203_7204delinsTG	ENSP00000510595.1:p.Val2401=
ENST00000693617.1:c.1737_1738delinsTG	ENSP00000510031.1:p.Val579=
ENST00000358273.9:c.7173_7174delinsTG MANE Select	ENSP00000351015.4:p.Val2391=
ENST00000356175.7:c.7110_7111delinsTG	ENSP00000348498.3:p.Val2370=
ENST00000358273.8:c.7173_7174delinsTG	ENSP00000351015.4:p.Val2391=
ENST00000456735.6:c.6108_6109delinsTG	ENSP00000389907.2:p.Val2036=
ENST00000471572.6:c.556_557delinsTG
ENST00000579081.5:c.7309_7310delinsTG	ENSP00000462408.1:n.7309_7310delinsTG
ENST00000581790.5:c.316_317delinsTG
ENST00000582892.1:n.415_416delinsTG
NM_000267.3:c.7110_7111delinsTG , LRG_214t1:c.7110_7111delinsTG	NP_000258.1:p.Val2370=
NM_001042492.2:c.7173_7174delinsTG , LRG_214t2:c.7173_7174delinsTG	NP_001035957.1:p.Val2391=
XM_005257983.1:c.7173_7174delinsTG	XP_005258040.1:p.Val2391=
XM_005257984.1:c.7110_7111delinsTG	XP_005258041.1:p.Val2370=
XM_006721922.1:c.7203_7204delinsTG	XP_006721985.1:p.Val2401=
XM_006721923.2:c.7164_7165delinsTG	XP_006721986.1:p.Val2388=
XM_006721924.1:c.7203_7204delinsTG	XP_006721987.1:p.Val2401=
XM_006721925.1:c.7140_7141delinsTG	XP_006721988.1:p.Val2380=
XM_006721926.2:c.7203_7204delinsTG	XP_006721989.1:p.Val2401=
XM_006721927.1:c.7203_7204delinsTG	XP_006721990.1:p.Val2401=
XM_011524852.1:c.7200_7201delinsTG	XP_011523154.1:p.Val2400=
XM_011524853.1:c.7164_7165delinsTG	XP_011523155.1:p.Val2388=
XM_011524854.1:c.7164_7165delinsTG	XP_011523156.1:p.Val2388=
XM_011524855.1:c.7164_7165delinsTG	XP_011523157.1:p.Val2388=
XM_011524856.1:c.7164_7165delinsTG	XP_011523158.1:p.Val2388=
XM_011524857.1:c.7203_7204delinsTG	XP_011523159.1:p.Val2401=
NM_001042492.3:c.7173_7174delinsTG MANE Select	NP_001035957.1:p.Val2391=