Canonical Allele Identifier: CA2580088571

Gene: MAX

Linked Data

• ClinVar Variation Id: 2453896
• ClinVar RCV Id: RCV003188031

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076614del , CM000676.2:g.65076614del	GRCh38
NC_000014.8:g.65543332del , CM000676.1:g.65543332del	GRCh37
NC_000014.7:g.64613085del	NCBI36
NG_029830.1:g.30899del , LRG_530:g.30899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.129del	ENSP00000452206.2:p.Ser44ProfsTer?
ENST00000556979.6:c.*801del	ENSP00000452378.1:n.*801del
ENST00000358664.9:c.348del MANE Select	ENSP00000351490.4:p.Ser117ProfsTer?
ENST00000651648.1:c.145-6242del	ENSP00000498863.1:n.145-6242del
ENST00000284165.10:c.*1192del	ENSP00000284165.6:n.*1192del
ENST00000341653.6:c.171+17097del	ENSP00000342482.2:n.171+17097del
ENST00000358402.8:c.321del	ENSP00000351175.4:p.Ser108ProfsTer?
ENST00000358664.8:c.348del	ENSP00000351490.4:p.Ser117ProfsTer?
ENST00000394606.6:c.*121del	ENSP00000378104.2:n.*121del
ENST00000553928.5:c.*137del	ENSP00000451907.1:n.*137del
ENST00000555419.5:c.240del	ENSP00000452405.1:p.Ser81ProfsTer?
ENST00000555932.5:c.89del	ENSP00000450763.1:p.Pro30LeufsTer29
ENST00000556892.5:c.129del	ENSP00000452206.1:p.Pro43=
ENST00000557277.5:c.159del	ENSP00000450955.1:p.Ser54ProfsTer?
ENST00000618858.4:c.*137del	ENSP00000480127.1:n.*137del
NM_001271069.1:c.144+17097del	NP_001257998.1:n.144+17097del
NM_002382.4:c.348del	NP_002373.3:p.Ser117ProfsTer?
NM_145112.2:c.321del	NP_660087.1:p.Ser108ProfsTer?
NM_145113.2:c.*137del	NP_660088.1:n.*137del
NM_197957.3:c.171+17097del	NP_932061.1:n.171+17097del
NR_073137.1:n.472del
XR_429315.2:n.635del
XR_943450.1:n.716del
XR_943451.1:n.732del
XR_943452.1:n.678del
NM_001320415.1:c.159del	NP_001307344.1:p.Ser54ProfsTer?
XM_017021312.2:c.159del	XP_016876801.1:p.Ser54ProfsTer?
XM_017021313.1:c.159del	XP_016876802.1:p.Ser54ProfsTer?
XR_001750326.2:n.693del
XR_001750327.2:n.612del
XR_002957553.1:n.1126del
XR_943450.3:n.716del
XR_943451.3:n.732del
XR_943452.3:n.677del
NM_001320415.2:c.159del	NP_001307344.1:p.Ser54ProfsTer?
NM_002382.5:c.348del MANE Select	NP_002373.3:p.Ser117ProfsTer?
NM_145112.3:c.321del	NP_660087.1:p.Ser108ProfsTer?
NM_145113.3:c.*137del	NP_660088.1:n.*137del
NM_001271069.2:c.144+17097del	NP_001257998.1:n.144+17097del
NM_197957.4:c.171+17097del	NP_932061.1:n.171+17097del