Canonical Allele Identifier: CA43192099

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs1048058262
• gnomAD v3: 2-15942095-GGCATGATCT-G
• gnomAD v4: 2-15942095-GGCATGATCT-G
• MyVariant Identifiers: chr2:g.16082218_16082226del (hg19) ; chr2:g.15942096_15942104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942099_15942107del , CM000664.2:g.15942099_15942107del	GRCh38
NC_000002.11:g.16082221_16082229del , CM000664.1:g.16082221_16082229del	GRCh37
NC_000002.10:g.15999672_15999680del	NCBI36
NG_007457.1:g.6539_6547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.35_43del (MYCN) MANE Select	ENSP00000281043.3:p.Met12_Cys14del
ENST00000638417.1:c.157+1356_157+1364del (MYCN)	ENSP00000491476.1:n.157+1356_157+1364del
ENST00000281043.3:c.35_43del (MYCN)	ENSP00000281043.3:p.Met12_Cys14del
NM_001293228.1:c.35_43del (MYCN)	NP_001280157.1:p.Met12_Cys14del
NM_001293231.1:c.157+1356_157+1364del (MYCN)	NP_001280160.1:n.157+1356_157+1364del
NM_001293233.1:c.309_317del (MYCN)	NP_001280162.1:p.His103_Leu105del
NM_005378.5:c.35_43del (MYCN)	NP_005369.2:p.Met12_Cys14del
NM_001329968.1:c.-234+48_-234+56del (MYCNOS)	NP_001316897.1:n.-234+48_-234+56del
XM_024452528.1:c.-234+278_-234+286del (MYCNOS)	XP_024308296.1:n.-234+278_-234+286del
NM_005378.6:c.35_43del (MYCN) MANE Select	NP_005369.2:p.Met12_Cys14del
NM_001293228.2:c.35_43del (MYCN)	NP_001280157.1:p.Met12_Cys14del
NM_001293231.2:c.157+1356_157+1364del (MYCN)	NP_001280160.1:n.157+1356_157+1364del
NM_001293233.2:c.309_317del (MYCN)	NP_001280162.1:p.His103_Leu105del
NR_161163.1:n.282+48_282+56del (MYCNOS)