Canonical Allele Identifier: CA2580093230
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134101
ClinVar RCV Id: RCV003064213

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31342999_31343012del , CM000679.2:g.31342999_31343012del GRCh38
NC_000017.10:g.29670017_29670030del , CM000679.1:g.29670017_29670030del GRCh37
NC_000017.9:g.26694143_26694156del NCBI36
NG_009018.1:g.253023_253036del , LRG_214:g.253023_253036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7045-10_7048del
ENST00000684826.1:c.1627-10_1630del
ENST00000687027.1:c.1219-10_1222del
ENST00000687863.1:n.3708-10_3711del
ENST00000691014.1:c.7093-10_7096del
ENST00000693617.1:c.1627-10_1630del
ENST00000358273.9:c.7063-10_7066del
ENST00000356175.7:c.7000-10_7003del
ENST00000358273.8:c.7063-10_7066del
ENST00000456735.6:c.5998-10_6001del
ENST00000471572.6:c.446-10_449del
ENST00000579081.5:c.7199-10_7202del
ENST00000581790.5:c.206-10_209del
ENST00000582892.1:n.305-10_308del
ENST00000584328.1:n.477-10_480del
NM_000267.3:c.7000-10_7003del , LRG_214t1:c.7000-10_7003del
NM_001042492.2:c.7063-10_7066del , LRG_214t2:c.7063-10_7066del
XM_005257983.1:c.7063-10_7066del
XM_005257984.1:c.7000-10_7003del
XM_006721922.1:c.7093-10_7096del
XM_006721923.2:c.7054-10_7057del
XM_006721924.1:c.7093-10_7096del
XM_006721925.1:c.7030-10_7033del
XM_006721926.2:c.7093-10_7096del
XM_006721927.1:c.7093-10_7096del
XM_011524852.1:c.7090-10_7093del
XM_011524853.1:c.7054-10_7057del
XM_011524854.1:c.7054-10_7057del
XM_011524855.1:c.7054-10_7057del
XM_011524856.1:c.7054-10_7057del
XM_011524857.1:c.7093-10_7096del
NM_001042492.3:c.7063-10_7066del