Canonical Allele Identifier: CA915943698

Gene: MYCN

Linked Data

• ClinVar Variation Id: 829866
• ClinVar RCV Id: RCV001029807
• dbSNP Id: rs1572220856

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945547_15945548del , CM000664.2:g.15945547_15945548del	GRCh38
NC_000002.11:g.16085669_16085670del , CM000664.1:g.16085669_16085670del	GRCh37
NC_000002.10:g.16003120_16003121del	NCBI36
NG_007457.1:g.9987_9988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.194_195del
ENST00000281043.4:c.845_846del MANE Select	ENSP00000281043.3:p.Val282GlyfsTer?
ENST00000638417.1:c.212_213del	ENSP00000491476.1:p.Val71GlyfsTer?
ENST00000281043.3:c.845_846del	ENSP00000281043.3:p.Val282GlyfsTer?
NM_001293228.1:c.845_846del	NP_001280157.1:p.Val282GlyfsTer?
NM_001293231.1:c.212_213del	NP_001280160.1:p.Val71GlyfsTer?
NM_001293233.1:c.*780_*781del	NP_001280162.1:n.*780_*781del
NM_005378.5:c.845_846del	NP_005369.2:p.Val282GlyfsTer?
NM_005378.6:c.845_846del MANE Select	NP_005369.2:p.Val282GlyfsTer?
NM_001293228.2:c.845_846del	NP_001280157.1:p.Val282GlyfsTer?
NM_001293231.2:c.212_213del	NP_001280160.1:p.Val71GlyfsTer?
NM_001293233.2:c.*780_*781del	NP_001280162.1:n.*780_*781del