Canonical Allele Identifier: CA658760992

Gene: NF1

Linked Data

• ClinVar Variation Id: 954564
• ClinVar RCV Id: RCV001227040 ; RCV003332308
• dbSNP Id: rs2069742717
• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338716del , CM000679.2:g.31338716del	GRCh38
NC_000017.10:g.29665734del , CM000679.1:g.29665734del	GRCh37
NC_000017.9:g.26689860del	NCBI36
NG_009018.1:g.248740del , LRG_214:g.248740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6814del	ENSP00000512431.1:p.Cys2272AlafsTer2
ENST00000684826.1:c.1396del	ENSP00000509994.1:p.Cys466AlafsTer2
ENST00000684998.1:n.2654del
ENST00000687027.1:c.988del	ENSP00000508715.1:p.Cys330AlafsTer2
ENST00000687863.1:n.3477del
ENST00000691014.1:c.6862del	ENSP00000510595.1:p.Cys2288AlafsTer2
ENST00000693617.1:c.1396del	ENSP00000510031.1:p.Cys466AlafsTer2
ENST00000358273.9:c.6832del MANE Select	ENSP00000351015.4:p.Cys2278AlafsTer2
ENST00000356175.7:c.6769del	ENSP00000348498.3:p.Cys2257AlafsTer2
ENST00000358273.8:c.6832del	ENSP00000351015.4:p.Cys2278AlafsTer2
ENST00000456735.6:c.5767del	ENSP00000389907.2:p.Cys1923AlafsTer2
ENST00000471572.6:c.215del
ENST00000579081.5:c.6968del	ENSP00000462408.1:n.6968del
ENST00000581790.5:c.64+836del
ENST00000584328.1:n.246del
NM_000267.3:c.6769del , LRG_214t1:c.6769del	NP_000258.1:p.Cys2257AlafsTer2
NM_001042492.2:c.6832del , LRG_214t2:c.6832del	NP_001035957.1:p.Cys2278AlafsTer2
XM_005257983.1:c.6832del	XP_005258040.1:p.Cys2278AlafsTer2
XM_005257984.1:c.6769del	XP_005258041.1:p.Cys2257AlafsTer2
XM_006721922.1:c.6862del	XP_006721985.1:p.Cys2288AlafsTer2
XM_006721923.2:c.6823del	XP_006721986.1:p.Cys2275AlafsTer2
XM_006721924.1:c.6862del	XP_006721987.1:p.Cys2288AlafsTer2
XM_006721925.1:c.6799del	XP_006721988.1:p.Cys2267AlafsTer2
XM_006721926.2:c.6862del	XP_006721989.1:p.Cys2288AlafsTer2
XM_006721927.1:c.6862del	XP_006721990.1:p.Cys2288AlafsTer2
XM_011524852.1:c.6859del	XP_011523154.1:p.Cys2287AlafsTer2
XM_011524853.1:c.6823del	XP_011523155.1:p.Cys2275AlafsTer2
XM_011524854.1:c.6823del	XP_011523156.1:p.Cys2275AlafsTer2
XM_011524855.1:c.6823del	XP_011523157.1:p.Cys2275AlafsTer2
XM_011524856.1:c.6823del	XP_011523158.1:p.Cys2275AlafsTer2
XM_011524857.1:c.6862del	XP_011523159.1:p.Cys2288AlafsTer2
NM_001042492.3:c.6832del MANE Select	NP_001035957.1:p.Cys2278AlafsTer2