Canonical Allele Identifier: CA658656623

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229289del , CM000679.2:g.31229289del	GRCh38
NC_000017.10:g.29556307del , CM000679.1:g.29556307del	GRCh37
NC_000017.9:g.26580433del	NCBI36
NG_009018.1:g.139313del , LRG_214:g.139313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2719del	ENSP00000512431.1:p.Ser907AlafsTer10
ENST00000696139.1:c.19del	ENSP00000512432.1:p.Ser7AlafsTer10
ENST00000691014.1:c.2704del	ENSP00000510595.1:p.Ser902AlafsTer10
ENST00000358273.9:c.2674del MANE Select	ENSP00000351015.4:p.Ser892AlafsTer10
ENST00000356175.7:c.2674del	ENSP00000348498.3:p.Ser892AlafsTer10
ENST00000358273.8:c.2674del	ENSP00000351015.4:p.Ser892AlafsTer10
ENST00000456735.6:c.1672del	ENSP00000389907.2:p.Ser558AlafsTer10
ENST00000493220.5:n.841del
ENST00000495910.6:c.2449del
ENST00000579081.5:c.2776del	ENSP00000462408.1:p.Ser926AlafsTer10
NM_000267.3:c.2674del , LRG_214t1:c.2674del	NP_000258.1:p.Ser892AlafsTer10
NM_001042492.2:c.2674del , LRG_214t2:c.2674del	NP_001035957.1:p.Ser892AlafsTer10
XM_005257983.1:c.2674del	XP_005258040.1:p.Ser892AlafsTer10
XM_005257984.1:c.2674del	XP_005258041.1:p.Ser892AlafsTer10
XM_006721922.1:c.2704del	XP_006721985.1:p.Ser902AlafsTer10
XM_006721923.2:c.2665del	XP_006721986.1:p.Ser889AlafsTer10
XM_006721924.1:c.2704del	XP_006721987.1:p.Ser902AlafsTer10
XM_006721925.1:c.2704del	XP_006721988.1:p.Ser902AlafsTer10
XM_006721926.2:c.2704del	XP_006721989.1:p.Ser902AlafsTer10
XM_006721927.1:c.2704del	XP_006721990.1:p.Ser902AlafsTer10
XM_006721928.2:c.2704del	XP_006721991.1:p.Ser902AlafsTer10
XM_011524852.1:c.2701del	XP_011523154.1:p.Ser901AlafsTer10
XM_011524853.1:c.2665del	XP_011523155.1:p.Ser889AlafsTer10
XM_011524854.1:c.2665del	XP_011523156.1:p.Ser889AlafsTer10
XM_011524855.1:c.2665del	XP_011523157.1:p.Ser889AlafsTer10
XM_011524856.1:c.2665del	XP_011523158.1:p.Ser889AlafsTer10
XM_011524857.1:c.2704del	XP_011523159.1:p.Ser902AlafsTer10
NM_001042492.3:c.2674del MANE Select	NP_001035957.1:p.Ser892AlafsTer10