Canonical Allele Identifier: CA1027884861

Gene: MYCN

Linked Data

• gnomAD v3: 2-15945834-G-GAGGACAGTGAGC
• gnomAD v4: 2-15945834-G-GAGGACAGTGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945835_15945846dup , CM000664.2:g.15945835_15945846dup	GRCh38
NC_000002.11:g.16085957_16085968dup , CM000664.1:g.16085957_16085968dup	GRCh37
NC_000002.10:g.16003408_16003419dup	NCBI36
NG_007457.1:g.10275_10286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.482_493dup
ENST00000281043.4:c.1133_1144dup MANE Select	ENSP00000281043.3:p.Glu381_Arg382insGlnAspSerGlu
ENST00000638417.1:c.500_511dup	ENSP00000491476.1:p.Glu170_Arg171insGlnAspSerGlu
ENST00000281043.3:c.1133_1144dup	ENSP00000281043.3:p.Glu381_Arg382insGlnAspSerGlu
NM_001293228.1:c.1133_1144dup	NP_001280157.1:p.Glu381_Arg382insGlnAspSerGlu
NM_001293231.1:c.500_511dup	NP_001280160.1:p.Glu170_Arg171insGlnAspSerGlu
NM_001293233.1:c.*1068_*1079dup	NP_001280162.1:n.*1068_*1079dup
NM_005378.5:c.1133_1144dup	NP_005369.2:p.Glu381_Arg382insGlnAspSerGlu
NM_005378.6:c.1133_1144dup MANE Select	NP_005369.2:p.Glu381_Arg382insGlnAspSerGlu
NM_001293228.2:c.1133_1144dup	NP_001280157.1:p.Glu381_Arg382insGlnAspSerGlu
NM_001293231.2:c.500_511dup	NP_001280160.1:p.Glu170_Arg171insGlnAspSerGlu
NM_001293233.2:c.*1068_*1079dup	NP_001280162.1:n.*1068_*1079dup