Canonical Allele Identifier: CA16615424
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404496
ClinVar RCV Id: RCV000456984
dbSNP Id: rs1060500301
MyVariant Identifiers: chr17:g.29527475_29527478del (hg19) chr17:g.31200457_31200460del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31200457_31200460del , CM000679.2:g.31200457_31200460del GRCh38
NC_000017.10:g.29527475_29527478del , CM000679.1:g.29527475_29527478del GRCh37
NC_000017.9:g.26551601_26551604del NCBI36
NG_009018.1:g.110481_110484del , LRG_214:g.110481_110484del

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.924_927del ENSP00000512431.1:p.Gly309MetfsTer7
ENST00000686189.1:c.339_342del ENSP00000509682.1:p.Gly114MetfsTer7
ENST00000688507.1:n.630_633del
ENST00000691014.1:c.924_927del ENSP00000510595.1:p.Gly309MetfsTer7
ENST00000692326.1:n.766_769del
ENST00000358273.9:c.924_927del MANE Select ENSP00000351015.4:p.Gly309MetfsTer7
ENST00000356175.7:c.924_927del ENSP00000348498.3:p.Gly309MetfsTer7
ENST00000358273.8:c.924_927del ENSP00000351015.4:p.Gly309MetfsTer7
ENST00000431387.8:c.924_927del ENSP00000412921.4:p.Gly309MetfsTer7
ENST00000487476.5:n.1307_1310del
ENST00000495910.6:c.699_702del
ENST00000579081.5:c.1026_1029del ENSP00000462408.1:p.Gly343MetfsTer7
NM_000267.3:c.924_927del , LRG_214t1:c.924_927del NP_000258.1:p.Gly309MetfsTer7
NM_001042492.2:c.924_927del , LRG_214t2:c.924_927del NP_001035957.1:p.Gly309MetfsTer7
NM_001128147.2:c.924_927del NP_001121619.1:p.Gly309MetfsTer7
XM_005257983.1:c.924_927del XP_005258040.1:p.Gly309MetfsTer7
XM_005257984.1:c.924_927del XP_005258041.1:p.Gly309MetfsTer7
XM_006721922.1:c.924_927del XP_006721985.1:p.Gly309MetfsTer7
XM_006721923.2:c.885_888del XP_006721986.1:p.Gly296MetfsTer7
XM_006721924.1:c.924_927del XP_006721987.1:p.Gly309MetfsTer7
XM_006721925.1:c.924_927del XP_006721988.1:p.Gly309MetfsTer7
XM_006721926.2:c.924_927del XP_006721989.1:p.Gly309MetfsTer7
XM_006721927.1:c.924_927del XP_006721990.1:p.Gly309MetfsTer7
XM_006721928.2:c.924_927del XP_006721991.1:p.Gly309MetfsTer7
XM_011524852.1:c.924_927del XP_011523154.1:p.Gly309MetfsTer7
XM_011524853.1:c.885_888del XP_011523155.1:p.Gly296MetfsTer7
XM_011524854.1:c.885_888del XP_011523156.1:p.Gly296MetfsTer7
XM_011524855.1:c.885_888del XP_011523157.1:p.Gly296MetfsTer7
XM_011524856.1:c.885_888del XP_011523158.1:p.Gly296MetfsTer7
XM_011524857.1:c.924_927del XP_011523159.1:p.Gly309MetfsTer7
NM_001042492.3:c.924_927del MANE Select NP_001035957.1:p.Gly309MetfsTer7
NM_001128147.3:c.924_927del NP_001121619.1:p.Gly309MetfsTer7
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