Canonical Allele Identifier: CA2580088562

Gene: MAX

Linked Data

• ClinVar Variation Id: 1987900
• ClinVar RCV Id: RCV002776328

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076481del , CM000676.2:g.65076481del	GRCh38
NC_000014.8:g.65543199del , CM000676.1:g.65543199del	GRCh37
NC_000014.7:g.64612952del	NCBI36
NG_029830.1:g.31029del , LRG_530:g.31029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.259del	ENSP00000452206.2:p.Ser87AlafsTer10
ENST00000556979.6:c.*931del	ENSP00000452378.1:n.*931del
ENST00000358664.9:c.478del MANE Select	ENSP00000351490.4:p.Ser160AlafsTer10
ENST00000651648.1:c.145-6112del	ENSP00000498863.1:n.145-6112del
ENST00000284165.10:c.*1322del	ENSP00000284165.6:n.*1322del
ENST00000341653.6:c.171+17227del	ENSP00000342482.2:n.171+17227del
ENST00000358402.8:c.451del	ENSP00000351175.4:p.Ser151AlafsTer10
ENST00000358664.8:c.478del	ENSP00000351490.4:p.Ser160AlafsTer10
ENST00000394606.6:c.*251del	ENSP00000378104.2:n.*251del
ENST00000553928.5:c.*267del	ENSP00000451907.1:n.*267del
ENST00000555419.5:c.370del	ENSP00000452405.1:p.Ser124AlafsTer10
ENST00000555932.5:c.219del	ENSP00000450763.1:p.Ala74LeufsTer?
ENST00000557277.5:c.289del	ENSP00000450955.1:p.Ser97AlafsTer?
ENST00000618858.4:c.*267del	ENSP00000480127.1:n.*267del
NM_001271069.1:c.144+17227del	NP_001257998.1:n.144+17227del
NM_002382.4:c.478del	NP_002373.3:p.Ser160AlafsTer10
NM_145112.2:c.451del	NP_660087.1:p.Ser151AlafsTer10
NM_145113.2:c.*267del	NP_660088.1:n.*267del
NM_197957.3:c.171+17227del	NP_932061.1:n.171+17227del
NR_073137.1:n.602del
XR_429315.2:n.765del
NM_001320415.1:c.289del	NP_001307344.1:p.Ser97AlafsTer10
XM_017021312.2:c.289del	XP_016876801.1:p.Ser97AlafsTer10
XM_017021313.1:c.289del	XP_016876802.1:p.Ser97AlafsTer10
XR_001750326.2:n.823del
XR_001750327.2:n.742del
XR_002957553.1:n.1256del
XR_943450.3:n.846del
XR_943451.3:n.862del
XR_943452.3:n.807del
NM_001320415.2:c.289del	NP_001307344.1:p.Ser97AlafsTer10
NM_002382.5:c.478del MANE Select	NP_002373.3:p.Ser160AlafsTer10
NM_145112.3:c.451del	NP_660087.1:p.Ser151AlafsTer10
NM_145113.3:c.*267del	NP_660088.1:n.*267del
NM_001271069.2:c.144+17227del	NP_001257998.1:n.144+17227del
NM_197957.4:c.171+17227del	NP_932061.1:n.171+17227del