Canonical Allele Identifier: CA2573153676

Gene: NF1

Linked Data

• ClinVar Variation Id: 1379098
• ClinVar RCV Id: RCV001883593
• dbSNP Id: rs2151537459

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325818_31325820del , CM000679.2:g.31325818_31325820del	GRCh38
NC_000017.10:g.29652836_29652838del , CM000679.1:g.29652836_29652838del	GRCh37
NC_000017.9:g.26676962_26676964del	NCBI36
NG_009018.1:g.235842_235844del , LRG_214:g.235842_235844del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.1024-2_1024del
ENST00000696138.1:c.4818-2_4818del
ENST00000684826.1:c.-601-2_-601del
ENST00000687027.1:c.-668-2_-668del
ENST00000687863.1:n.1481-2_1481del
ENST00000691014.1:c.4866-2_4866del
ENST00000693617.1:c.-601-2_-601del
ENST00000358273.9:c.4836-2_4836del
ENST00000356175.7:c.4773-2_4773del
ENST00000358273.8:c.4836-2_4836del
ENST00000456735.6:c.3771-2_3771del
ENST00000493220.5:n.3309-2_3309del
ENST00000579081.5:c.4972-2_4972del
ENST00000581113.6:n.153-2_153del
NM_000267.3:c.4773-2_4773del , LRG_214t1:c.4773-2_4773del
NM_001042492.2:c.4836-2_4836del , LRG_214t2:c.4836-2_4836del
XM_005257983.1:c.4836-2_4836del
XM_005257984.1:c.4773-2_4773del
XM_006721922.1:c.4866-2_4866del
XM_006721923.2:c.4827-2_4827del
XM_006721924.1:c.4866-2_4866del
XM_006721925.1:c.4803-2_4803del
XM_006721926.2:c.4866-2_4866del
XM_006721927.1:c.4866-2_4866del
XM_011524852.1:c.4863-2_4863del
XM_011524853.1:c.4827-2_4827del
XM_011524854.1:c.4827-2_4827del
XM_011524855.1:c.4827-2_4827del
XM_011524856.1:c.4827-2_4827del
XM_011524857.1:c.4866-2_4866del
NM_001042492.3:c.4836-2_4836del