Canonical Allele Identifier: CA16615130
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1060500321
MyVariant Identifiers: chr17:g.29486029_29486030del (hg19) chr17:g.31159011_31159012del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31159011_31159012del , CM000679.2:g.31159011_31159012del GRCh38
NC_000017.10:g.29486029_29486030del , CM000679.1:g.29486029_29486030del GRCh37
NC_000017.9:g.26510155_26510156del NCBI36
NG_009018.1:g.69035_69036del , LRG_214:g.69035_69036del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.206_207del
ENST00000691014.1:c.206_207del
ENST00000358273.9:c.206_207del
ENST00000356175.7:c.206_207del
ENST00000358273.8:c.206_207del
ENST00000431387.8:c.206_207del
ENST00000487476.5:n.589_590del
ENST00000489712.6:c.5_6del
ENST00000495910.6:c.88_89del
ENST00000579081.5:c.308_309del
NM_000267.3:c.206_207del , LRG_214t1:c.206_207del
NM_001042492.2:c.206_207del , LRG_214t2:c.206_207del
NM_001128147.2:c.206_207del
XM_005257983.1:c.206_207del
XM_005257984.1:c.206_207del
XM_006721922.1:c.206_207del
XM_006721923.2:c.167_168del
XM_006721924.1:c.206_207del
XM_006721925.1:c.206_207del
XM_006721926.2:c.206_207del
XM_006721927.1:c.206_207del
XM_006721928.2:c.206_207del
XM_011524852.1:c.206_207del
XM_011524853.1:c.167_168del
XM_011524854.1:c.167_168del
XM_011524855.1:c.167_168del
XM_011524856.1:c.167_168del
XM_011524857.1:c.206_207del
NM_001042492.3:c.206_207del
NM_001128147.3:c.206_207del
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