Canonical Allele Identifier: CA2255605014
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31342955_31342959delinsTAAAG , CM000679.2:g.31342955_31342959delinsTAAAG GRCh38
NC_000017.10:g.29669973_29669977delinsTAAAG , CM000679.1:g.29669973_29669977delinsTAAAG GRCh37
NC_000017.9:g.26694099_26694103delinsTAAAG NCBI36
NG_009018.1:g.252979_252983delinsTAAAG , LRG_214:g.252979_252983delinsTAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7045-54_7045-50delinsTAAAG ENSP00000512431.1:n.7045-54_7045-50delinsTAAAG
ENST00000684826.1:c.1627-54_1627-50delinsTAAAG ENSP00000509994.1:n.1627-54_1627-50delinsTAAAG
ENST00000687027.1:c.1219-54_1219-50delinsTAAAG ENSP00000508715.1:n.1219-54_1219-50delinsTAAAG
ENST00000687863.1:n.3708-54_3708-50delinsTAAAG
ENST00000691014.1:c.7093-54_7093-50delinsTAAAG ENSP00000510595.1:n.7093-54_7093-50delinsTAAAG
ENST00000693617.1:c.1627-54_1627-50delinsTAAAG ENSP00000510031.1:n.1627-54_1627-50delinsTAAAG
ENST00000358273.9:c.7063-54_7063-50delinsTAAAG MANE Select ENSP00000351015.4:n.7063-54_7063-50delinsTAAAG
ENST00000356175.7:c.7000-54_7000-50delinsTAAAG ENSP00000348498.3:n.7000-54_7000-50delinsTAAAG
ENST00000358273.8:c.7063-54_7063-50delinsTAAAG ENSP00000351015.4:n.7063-54_7063-50delinsTAAAG
ENST00000456735.6:c.5998-54_5998-50delinsTAAAG ENSP00000389907.2:n.5998-54_5998-50delinsTAAAG
ENST00000471572.6:c.446-54_446-50delinsTAAAG
ENST00000579081.5:c.7199-54_7199-50delinsTAAAG ENSP00000462408.1:n.7199-54_7199-50delinsTAAAG
ENST00000581790.5:c.206-54_206-50delinsTAAAG
ENST00000582892.1:n.305-54_305-50delinsTAAAG
ENST00000584328.1:n.477-54_477-50delinsTAAAG
NM_000267.3:c.7000-54_7000-50delinsTAAAG , LRG_214t1:c.7000-54_7000-50delinsTAAAG NP_000258.1:n.7000-54_7000-50delinsTAAAG
NM_001042492.2:c.7063-54_7063-50delinsTAAAG , LRG_214t2:c.7063-54_7063-50delinsTAAAG NP_001035957.1:n.7063-54_7063-50delinsTAAAG
XM_005257983.1:c.7063-54_7063-50delinsTAAAG XP_005258040.1:n.7063-54_7063-50delinsTAAAG
XM_005257984.1:c.7000-54_7000-50delinsTAAAG XP_005258041.1:n.7000-54_7000-50delinsTAAAG
XM_006721922.1:c.7093-54_7093-50delinsTAAAG XP_006721985.1:n.7093-54_7093-50delinsTAAAG
XM_006721923.2:c.7054-54_7054-50delinsTAAAG XP_006721986.1:n.7054-54_7054-50delinsTAAAG
XM_006721924.1:c.7093-54_7093-50delinsTAAAG XP_006721987.1:n.7093-54_7093-50delinsTAAAG
XM_006721925.1:c.7030-54_7030-50delinsTAAAG XP_006721988.1:n.7030-54_7030-50delinsTAAAG
XM_006721926.2:c.7093-54_7093-50delinsTAAAG XP_006721989.1:n.7093-54_7093-50delinsTAAAG
XM_006721927.1:c.7093-54_7093-50delinsTAAAG XP_006721990.1:n.7093-54_7093-50delinsTAAAG
XM_011524852.1:c.7090-54_7090-50delinsTAAAG XP_011523154.1:n.7090-54_7090-50delinsTAAAG
XM_011524853.1:c.7054-54_7054-50delinsTAAAG XP_011523155.1:n.7054-54_7054-50delinsTAAAG
XM_011524854.1:c.7054-54_7054-50delinsTAAAG XP_011523156.1:n.7054-54_7054-50delinsTAAAG
XM_011524855.1:c.7054-54_7054-50delinsTAAAG XP_011523157.1:n.7054-54_7054-50delinsTAAAG
XM_011524856.1:c.7054-54_7054-50delinsTAAAG XP_011523158.1:n.7054-54_7054-50delinsTAAAG
XM_011524857.1:c.7093-54_7093-50delinsTAAAG XP_011523159.1:n.7093-54_7093-50delinsTAAAG
NM_001042492.3:c.7063-54_7063-50delinsTAAAG MANE Select NP_001035957.1:n.7063-54_7063-50delinsTAAAG