Canonical Allele Identifier: CA16615287
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404569
ClinVar RCV Id: RCV000459762
dbSNP Id: rs1060500354
MyVariant Identifiers: chr17:g.29661951_29661952insTA (hg19) chr17:g.31334933_31334934insTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334933_31334934insTA , CM000679.2:g.31334933_31334934insTA GRCh38
NC_000017.10:g.29661951_29661952insTA , CM000679.1:g.29661951_29661952insTA GRCh37
NC_000017.9:g.26686077_26686078insTA NCBI36
NG_009018.1:g.244957_244958insTA , LRG_214:g.244957_244958insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2096_2097insTA ENSP00000492721.2:n.2096_2097insTA
ENST00000696138.1:c.5890_5891insTA ENSP00000512431.1:p.Arg1964IlefsTer10
ENST00000684826.1:c.472_473insTA ENSP00000509994.1:p.Arg158IlefsTer10
ENST00000687027.1:c.64_65insTA ENSP00000508715.1:p.Arg22IlefsTer10
ENST00000687863.1:n.2553_2554insTA
ENST00000691014.1:c.5938_5939insTA ENSP00000510595.1:p.Arg1980IlefsTer10
ENST00000693617.1:c.472_473insTA ENSP00000510031.1:p.Arg158IlefsTer10
ENST00000358273.9:c.5908_5909insTA MANE Select ENSP00000351015.4:p.Arg1970IlefsTer10
ENST00000356175.7:c.5845_5846insTA ENSP00000348498.3:p.Arg1949IlefsTer10
ENST00000358273.8:c.5908_5909insTA ENSP00000351015.4:p.Arg1970IlefsTer10
ENST00000456735.6:c.4843_4844insTA ENSP00000389907.2:p.Arg1615IlefsTer10
ENST00000479536.2:c.333_334insTA
ENST00000579081.5:c.6044_6045insTA ENSP00000462408.1:n.6044_6045insTA
ENST00000581113.6:n.1225_1226insTA
NM_000267.3:c.5845_5846insTA , LRG_214t1:c.5845_5846insTA NP_000258.1:p.Arg1949IlefsTer10
NM_001042492.2:c.5908_5909insTA , LRG_214t2:c.5908_5909insTA NP_001035957.1:p.Arg1970IlefsTer10
XM_005257983.1:c.5908_5909insTA XP_005258040.1:p.Arg1970IlefsTer10
XM_005257984.1:c.5845_5846insTA XP_005258041.1:p.Arg1949IlefsTer10
XM_006721922.1:c.5938_5939insTA XP_006721985.1:p.Arg1980IlefsTer10
XM_006721923.2:c.5899_5900insTA XP_006721986.1:p.Arg1967IlefsTer10
XM_006721924.1:c.5938_5939insTA XP_006721987.1:p.Arg1980IlefsTer10
XM_006721925.1:c.5875_5876insTA XP_006721988.1:p.Arg1959IlefsTer10
XM_006721926.2:c.5938_5939insTA XP_006721989.1:p.Arg1980IlefsTer10
XM_006721927.1:c.5938_5939insTA XP_006721990.1:p.Arg1980IlefsTer10
XM_011524852.1:c.5935_5936insTA XP_011523154.1:p.Arg1979IlefsTer10
XM_011524853.1:c.5899_5900insTA XP_011523155.1:p.Arg1967IlefsTer10
XM_011524854.1:c.5899_5900insTA XP_011523156.1:p.Arg1967IlefsTer10
XM_011524855.1:c.5899_5900insTA XP_011523157.1:p.Arg1967IlefsTer10
XM_011524856.1:c.5899_5900insTA XP_011523158.1:p.Arg1967IlefsTer10
XM_011524857.1:c.5938_5939insTA XP_011523159.1:p.Arg1980IlefsTer10
NM_001042492.3:c.5908_5909insTA MANE Select NP_001035957.1:p.Arg1970IlefsTer10
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