Canonical Allele Identifier: CA16617253
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 420633
ClinVar RCV Id: RCV000484900
dbSNP Id: rs1064794600
MyVariant Identifiers: chr2:g.16086182_16086187del (hg19) chr2:g.15946060_15946065del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15946060_15946065del , CM000664.2:g.15946060_15946065del GRCh38
NC_000002.11:g.16086182_16086187del , CM000664.1:g.16086182_16086187del GRCh37
NC_000002.10:g.16003633_16003638del NCBI36
NG_007457.1:g.10500_10505del

Transcript Alleles

HGVS Amino-acid change
ENST00000703162.1:n.707_712del
ENST00000281043.4:c.1358_1363del MANE Select ENSP00000281043.3:p.Gln453_Leu454del
ENST00000638417.1:c.725_730del ENSP00000491476.1:p.Gln242_Leu243del
ENST00000281043.3:c.1358_1363del ENSP00000281043.3:p.Gln453_Leu454del
NM_001293228.1:c.1358_1363del NP_001280157.1:p.Gln453_Leu454del
NM_001293231.1:c.725_730del NP_001280160.1:p.Gln242_Leu243del
NM_001293233.1:c.*1293_*1298del NP_001280162.1:n.*1293_*1298del
NM_005378.5:c.1358_1363del NP_005369.2:p.Gln453_Leu454del
NM_005378.6:c.1358_1363del MANE Select NP_005369.2:p.Gln453_Leu454del
NM_001293228.2:c.1358_1363del NP_001280157.1:p.Gln453_Leu454del
NM_001293231.2:c.725_730del NP_001280160.1:p.Gln242_Leu243del
NM_001293233.2:c.*1293_*1298del NP_001280162.1:n.*1293_*1298del
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