Canonical Allele Identifier: CA531217891

Gene: MYCN

Linked Data

• dbSNP Id: rs1267141762
• gnomAD v2: 2-16085634-GGAAGAT-G
• gnomAD v4: 2-15945512-GGAAGAT-G
• MyVariant Identifiers: chr2:g.16085635_16085640del (hg19) ; chr2:g.15945513_15945518del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945518_15945523del , CM000664.2:g.15945518_15945523del	GRCh38
NC_000002.11:g.16085640_16085645del , CM000664.1:g.16085640_16085645del	GRCh37
NC_000002.10:g.16003091_16003096del	NCBI36
NG_007457.1:g.9958_9963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.165_170del
ENST00000281043.4:c.816_821del MANE Select	ENSP00000281043.3:p.Asp272_Glu273del
ENST00000638417.1:c.183_188del	ENSP00000491476.1:p.Asp61_Glu62del
ENST00000281043.3:c.816_821del	ENSP00000281043.3:p.Asp272_Glu273del
NM_001293228.1:c.816_821del	NP_001280157.1:p.Asp272_Glu273del
NM_001293231.1:c.183_188del	NP_001280160.1:p.Asp61_Glu62del
NM_001293233.1:c.*751_*756del	NP_001280162.1:n.*751_*756del
NM_005378.5:c.816_821del	NP_005369.2:p.Asp272_Glu273del
NM_005378.6:c.816_821del MANE Select	NP_005369.2:p.Asp272_Glu273del
NM_001293228.2:c.816_821del	NP_001280157.1:p.Asp272_Glu273del
NM_001293231.2:c.183_188del	NP_001280160.1:p.Asp61_Glu62del
NM_001293233.2:c.*751_*756del	NP_001280162.1:n.*751_*756del