Canonical Allele Identifier: CA2255538702
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31156005_31156006delinsAG , CM000679.2:g.31156005_31156006delinsAG GRCh38
NC_000017.10:g.29483023_29483024delinsAG , CM000679.1:g.29483023_29483024delinsAG GRCh37
NC_000017.9:g.26507149_26507150delinsAG NCBI36
NG_009018.1:g.66029_66030delinsAG , LRG_214:g.66029_66030delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.83_84delinsAG ENSP00000512431.1:p.Gln28=
ENST00000691014.1:c.83_84delinsAG ENSP00000510595.1:p.Gln28=
ENST00000358273.9:c.83_84delinsAG MANE Select ENSP00000351015.4:p.Gln28=
ENST00000356175.7:c.83_84delinsAG ENSP00000348498.3:p.Gln28=
ENST00000358273.8:c.83_84delinsAG ENSP00000351015.4:p.Gln28=
ENST00000431387.8:c.83_84delinsAG ENSP00000412921.4:p.Gln28=
ENST00000487476.5:n.466_467delinsAG
ENST00000489712.6:c.-119_-118delinsAG ENSP00000467284.1:n.-119_-118delinsAG
ENST00000579081.5:c.185_186delinsAG ENSP00000462408.1:p.Gln62=
NM_000267.3:c.83_84delinsAG , LRG_214t1:c.83_84delinsAG NP_000258.1:p.Gln28=
NM_001042492.2:c.83_84delinsAG , LRG_214t2:c.83_84delinsAG NP_001035957.1:p.Gln28=
NM_001128147.2:c.83_84delinsAG NP_001121619.1:p.Gln28=
XM_005257983.1:c.83_84delinsAG XP_005258040.1:p.Gln28=
XM_005257984.1:c.83_84delinsAG XP_005258041.1:p.Gln28=
XM_006721922.1:c.83_84delinsAG XP_006721985.1:p.Gln28=
XM_006721923.2:c.44_45delinsAG XP_006721986.1:p.Gln15=
XM_006721924.1:c.83_84delinsAG XP_006721987.1:p.Gln28=
XM_006721925.1:c.83_84delinsAG XP_006721988.1:p.Gln28=
XM_006721926.2:c.83_84delinsAG XP_006721989.1:p.Gln28=
XM_006721927.1:c.83_84delinsAG XP_006721990.1:p.Gln28=
XM_006721928.2:c.83_84delinsAG XP_006721991.1:p.Gln28=
XM_011524852.1:c.83_84delinsAG XP_011523154.1:p.Gln28=
XM_011524853.1:c.44_45delinsAG XP_011523155.1:p.Gln15=
XM_011524854.1:c.44_45delinsAG XP_011523156.1:p.Gln15=
XM_011524855.1:c.44_45delinsAG XP_011523157.1:p.Gln15=
XM_011524856.1:c.44_45delinsAG XP_011523158.1:p.Gln15=
XM_011524857.1:c.83_84delinsAG XP_011523159.1:p.Gln28=
NM_001042492.3:c.83_84delinsAG MANE Select NP_001035957.1:p.Gln28=
NM_001128147.3:c.83_84delinsAG NP_001121619.1:p.Gln28=