Canonical Allele Identifier: CA531217884

Gene: MYCN

Linked Data

• dbSNP Id: rs1192897052
• gnomAD v2: 2-16085619-TGAA-T
• gnomAD v3: 2-15945497-TGAA-T
• gnomAD v4: 2-15945497-TGAA-T
• MyVariant Identifiers: chr2:g.16085620_16085622del (hg19) ; chr2:g.15945498_15945500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945500_15945502del , CM000664.2:g.15945500_15945502del	GRCh38
NC_000002.11:g.16085622_16085624del , CM000664.1:g.16085622_16085624del	GRCh37
NC_000002.10:g.16003073_16003075del	NCBI36
NG_007457.1:g.9940_9942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.147_149del
ENST00000281043.4:c.798_800del MANE Select	ENSP00000281043.3:p.Glu266del
ENST00000638417.1:c.165_167del	ENSP00000491476.1:p.Glu55del
ENST00000281043.3:c.798_800del	ENSP00000281043.3:p.Glu266del
NM_001293228.1:c.798_800del	NP_001280157.1:p.Glu266del
NM_001293231.1:c.165_167del	NP_001280160.1:p.Glu55del
NM_001293233.1:c.*733_*735del	NP_001280162.1:n.*733_*735del
NM_005378.5:c.798_800del	NP_005369.2:p.Glu266del
NM_005378.6:c.798_800del MANE Select	NP_005369.2:p.Glu266del
NM_001293228.2:c.798_800del	NP_001280157.1:p.Glu266del
NM_001293231.2:c.165_167del	NP_001280160.1:p.Glu55del
NM_001293233.2:c.*733_*735del	NP_001280162.1:n.*733_*735del