Canonical Allele Identifier: CA645571280

Gene: NF1

Linked Data

• COSMIC: COSM1717682 ; COSM1717683

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229317_31229318insGTCG , CM000679.2:g.31229317_31229318insGTCG	GRCh38
NC_000017.10:g.29556335_29556336insGTCG , CM000679.1:g.29556335_29556336insGTCG	GRCh37
NC_000017.9:g.26580461_26580462insGTCG	NCBI36
NG_009018.1:g.139341_139342insGTCG , LRG_214:g.139341_139342insGTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.2747_2748insGTCG	ENSP00000512431.1:p.Met917SerfsTer5
ENST00000696139.1:c.47_48insGTCG	ENSP00000512432.1:p.Met17SerfsTer5
ENST00000691014.1:c.2732_2733insGTCG	ENSP00000510595.1:p.Met912SerfsTer5
ENST00000358273.9:c.2702_2703insGTCG MANE Select	ENSP00000351015.4:p.Met902SerfsTer5
ENST00000356175.7:c.2702_2703insGTCG	ENSP00000348498.3:p.Met902SerfsTer5
ENST00000358273.8:c.2702_2703insGTCG	ENSP00000351015.4:p.Met902SerfsTer5
ENST00000456735.6:c.1700_1701insGTCG	ENSP00000389907.2:p.Met568SerfsTer5
ENST00000493220.5:n.869_870insGTCG
ENST00000495910.6:c.2477_2478insGTCG
ENST00000579081.5:c.2804_2805insGTCG	ENSP00000462408.1:p.Met936SerfsTer5
NM_000267.3:c.2702_2703insGTCG , LRG_214t1:c.2702_2703insGTCG	NP_000258.1:p.Met902SerfsTer5
NM_001042492.2:c.2702_2703insGTCG , LRG_214t2:c.2702_2703insGTCG	NP_001035957.1:p.Met902SerfsTer5
XM_005257983.1:c.2702_2703insGTCG	XP_005258040.1:p.Met902SerfsTer5
XM_005257984.1:c.2702_2703insGTCG	XP_005258041.1:p.Met902SerfsTer5
XM_006721922.1:c.2732_2733insGTCG	XP_006721985.1:p.Met912SerfsTer5
XM_006721923.2:c.2693_2694insGTCG	XP_006721986.1:p.Met899SerfsTer5
XM_006721924.1:c.2732_2733insGTCG	XP_006721987.1:p.Met912SerfsTer5
XM_006721925.1:c.2732_2733insGTCG	XP_006721988.1:p.Met912SerfsTer5
XM_006721926.2:c.2732_2733insGTCG	XP_006721989.1:p.Met912SerfsTer5
XM_006721927.1:c.2732_2733insGTCG	XP_006721990.1:p.Met912SerfsTer5
XM_006721928.2:c.2732_2733insGTCG	XP_006721991.1:p.Met912SerfsTer5
XM_011524852.1:c.2729_2730insGTCG	XP_011523154.1:p.Met911SerfsTer5
XM_011524853.1:c.2693_2694insGTCG	XP_011523155.1:p.Met899SerfsTer5
XM_011524854.1:c.2693_2694insGTCG	XP_011523156.1:p.Met899SerfsTer5
XM_011524855.1:c.2693_2694insGTCG	XP_011523157.1:p.Met899SerfsTer5
XM_011524856.1:c.2693_2694insGTCG	XP_011523158.1:p.Met899SerfsTer5
XM_011524857.1:c.2732_2733insGTCG	XP_011523159.1:p.Met912SerfsTer5
NM_001042492.3:c.2702_2703insGTCG MANE Select	NP_001035957.1:p.Met902SerfsTer5