Canonical Allele Identifier: CA645582462

Gene: NF1

Linked Data

• COSMIC: COSM27355

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260502_31260503del , CM000679.2:g.31260502_31260503del	GRCh38
NC_000017.10:g.29587520_29587521del , CM000679.1:g.29587520_29587521del	GRCh37
NC_000017.9:g.26611646_26611647del	NCBI36
NG_009018.1:g.170526_170527del , LRG_214:g.170526_170527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.352_353del	ENSP00000492721.2:p.Leu118PhefsTer?
ENST00000696138.1:c.4546_4547del	ENSP00000512431.1:p.Leu1516PhefsTer7
ENST00000696140.1:n.670_671del
ENST00000696141.1:c.555_556del
ENST00000687863.1:n.1209_1210del
ENST00000691014.1:c.4594_4595del	ENSP00000510595.1:p.Leu1532PhefsTer7
ENST00000691649.1:n.1775_1776del
ENST00000358273.9:c.4564_4565del MANE Select	ENSP00000351015.4:p.Leu1522PhefsTer7
ENST00000356175.7:c.4501_4502del	ENSP00000348498.3:p.Leu1501PhefsTer7
ENST00000358273.8:c.4564_4565del	ENSP00000351015.4:p.Leu1522PhefsTer7
ENST00000456735.6:c.3499_3500del	ENSP00000389907.2:p.Leu1167PhefsTer7
ENST00000466819.5:c.1080_1081del
ENST00000479614.1:c.1017_1018del
ENST00000493220.5:n.3037_3038del
ENST00000579081.5:c.4603_4604del	ENSP00000462408.1:p.Leu1535PhefsTer7
NM_000267.3:c.4501_4502del , LRG_214t1:c.4501_4502del	NP_000258.1:p.Leu1501PhefsTer7
NM_001042492.2:c.4564_4565del , LRG_214t2:c.4564_4565del	NP_001035957.1:p.Leu1522PhefsTer7
XM_005257983.1:c.4564_4565del	XP_005258040.1:p.Leu1522PhefsTer7
XM_005257984.1:c.4501_4502del	XP_005258041.1:p.Leu1501PhefsTer7
XM_006721922.1:c.4594_4595del	XP_006721985.1:p.Leu1532PhefsTer7
XM_006721923.2:c.4555_4556del	XP_006721986.1:p.Leu1519PhefsTer7
XM_006721924.1:c.4594_4595del	XP_006721987.1:p.Leu1532PhefsTer7
XM_006721925.1:c.4531_4532del	XP_006721988.1:p.Leu1511PhefsTer7
XM_006721926.2:c.4594_4595del	XP_006721989.1:p.Leu1532PhefsTer7
XM_006721927.1:c.4594_4595del	XP_006721990.1:p.Leu1532PhefsTer7
XM_006721928.2:c.4594_4595del	XP_006721991.1:p.Leu1532PhefsTer7
XM_011524852.1:c.4591_4592del	XP_011523154.1:p.Leu1531PhefsTer7
XM_011524853.1:c.4555_4556del	XP_011523155.1:p.Leu1519PhefsTer7
XM_011524854.1:c.4555_4556del	XP_011523156.1:p.Leu1519PhefsTer7
XM_011524855.1:c.4555_4556del	XP_011523157.1:p.Leu1519PhefsTer7
XM_011524856.1:c.4555_4556del	XP_011523158.1:p.Leu1519PhefsTer7
XM_011524857.1:c.4594_4595del	XP_011523159.1:p.Leu1532PhefsTer7
NM_001042492.3:c.4564_4565del MANE Select	NP_001035957.1:p.Leu1522PhefsTer7