Canonical Allele Identifier: CA2637078305

Gene: NF1

Linked Data

• gnomAD v4: 17-31338591-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338592_31338593insCT , CM000679.2:g.31338592_31338593insCT	GRCh38
NC_000017.10:g.29665610_29665611insCT , CM000679.1:g.29665610_29665611insCT	GRCh37
NC_000017.9:g.26689736_26689737insCT	NCBI36
NG_009018.1:g.248616_248617insCT , LRG_214:g.248616_248617insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6802-112_6802-111insCT	ENSP00000512431.1:n.6802-112_6802-111insCT
ENST00000684826.1:c.1384-112_1384-111insCT	ENSP00000509994.1:n.1384-112_1384-111insCT
ENST00000684998.1:n.2530_2531insCT
ENST00000687027.1:c.976-112_976-111insCT	ENSP00000508715.1:n.976-112_976-111insCT
ENST00000687863.1:n.3465-112_3465-111insCT
ENST00000691014.1:c.6850-112_6850-111insCT	ENSP00000510595.1:n.6850-112_6850-111insCT
ENST00000693617.1:c.1384-112_1384-111insCT	ENSP00000510031.1:n.1384-112_1384-111insCT
ENST00000358273.9:c.6820-112_6820-111insCT MANE Select	ENSP00000351015.4:n.6820-112_6820-111insCT
ENST00000356175.7:c.6757-112_6757-111insCT	ENSP00000348498.3:n.6757-112_6757-111insCT
ENST00000358273.8:c.6820-112_6820-111insCT	ENSP00000351015.4:n.6820-112_6820-111insCT
ENST00000456735.6:c.5755-112_5755-111insCT	ENSP00000389907.2:n.5755-112_5755-111insCT
ENST00000471572.6:c.203-112_203-111insCT
ENST00000579081.5:c.6956-112_6956-111insCT	ENSP00000462408.1:n.6956-112_6956-111insCT
ENST00000581790.5:c.64+712_64+713insCT
ENST00000584328.1:n.234-112_234-111insCT
NM_000267.3:c.6757-112_6757-111insCT , LRG_214t1:c.6757-112_6757-111insCT	NP_000258.1:n.6757-112_6757-111insCT
NM_001042492.2:c.6820-112_6820-111insCT , LRG_214t2:c.6820-112_6820-111insCT	NP_001035957.1:n.6820-112_6820-111insCT
XM_005257983.1:c.6820-112_6820-111insCT	XP_005258040.1:n.6820-112_6820-111insCT
XM_005257984.1:c.6757-112_6757-111insCT	XP_005258041.1:n.6757-112_6757-111insCT
XM_006721922.1:c.6850-112_6850-111insCT	XP_006721985.1:n.6850-112_6850-111insCT
XM_006721923.2:c.6811-112_6811-111insCT	XP_006721986.1:n.6811-112_6811-111insCT
XM_006721924.1:c.6850-112_6850-111insCT	XP_006721987.1:n.6850-112_6850-111insCT
XM_006721925.1:c.6787-112_6787-111insCT	XP_006721988.1:n.6787-112_6787-111insCT
XM_006721926.2:c.6850-112_6850-111insCT	XP_006721989.1:n.6850-112_6850-111insCT
XM_006721927.1:c.6850-112_6850-111insCT	XP_006721990.1:n.6850-112_6850-111insCT
XM_011524852.1:c.6847-112_6847-111insCT	XP_011523154.1:n.6847-112_6847-111insCT
XM_011524853.1:c.6811-112_6811-111insCT	XP_011523155.1:n.6811-112_6811-111insCT
XM_011524854.1:c.6811-112_6811-111insCT	XP_011523156.1:n.6811-112_6811-111insCT
XM_011524855.1:c.6811-112_6811-111insCT	XP_011523157.1:n.6811-112_6811-111insCT
XM_011524856.1:c.6811-112_6811-111insCT	XP_011523158.1:n.6811-112_6811-111insCT
XM_011524857.1:c.6850-112_6850-111insCT	XP_011523159.1:n.6850-112_6850-111insCT
NM_001042492.3:c.6820-112_6820-111insCT MANE Select	NP_001035957.1:n.6820-112_6820-111insCT