Canonical Allele Identifier: CA2539291489
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075169_65075170del , CM000676.2:g.65075169_65075170del GRCh38
NC_000014.8:g.65541887_65541888del , CM000676.1:g.65541887_65541888del GRCh37
NC_000014.7:g.64611640_64611641del NCBI36
NG_029830.1:g.32343_32344del , LRG_530:g.32343_32344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000556979.6:c.*2245_*2246del ENSP00000452378.1:n.*2245_*2246del
ENST00000358664.9:c.*1309_*1310del MANE Select ENSP00000351490.4:n.*1309_*1310del
ENST00000651648.1:c.145-4798_145-4797del ENSP00000498863.1:n.145-4798_145-4797del
ENST00000341653.6:c.171+18541_171+18542del ENSP00000342482.2:n.171+18541_171+18542del
ENST00000358402.8:c.*1309_*1310del ENSP00000351175.4:n.*1309_*1310del
ENST00000394606.6:c.*1565_*1566del ENSP00000378104.2:n.*1565_*1566del
ENST00000555932.5:c.*1284_*1285del ENSP00000450763.1:n.*1284_*1285del
ENST00000618858.4:c.*1581_*1582del ENSP00000480127.1:n.*1581_*1582del
NM_001271069.1:c.144+18541_144+18542del NP_001257998.1:n.144+18541_144+18542del
NM_002382.4:c.*1309_*1310del NP_002373.3:n.*1309_*1310del
NM_145112.2:c.*1309_*1310del NP_660087.1:n.*1309_*1310del
NM_145113.2:c.*1581_*1582del NP_660088.1:n.*1581_*1582del
NM_197957.3:c.171+18541_171+18542del NP_932061.1:n.171+18541_171+18542del
NR_073137.1:n.1916_1917del
XR_429315.2:n.2079_2080del
NM_001320415.1:c.*1309_*1310del NP_001307344.1:n.*1309_*1310del
XM_017021312.2:c.*1309_*1310del XP_016876801.1:n.*1309_*1310del
XM_017021313.1:c.*1309_*1310del XP_016876802.1:n.*1309_*1310del
XR_001750326.2:n.2137_2138del
XR_001750327.2:n.2056_2057del
XR_002957553.1:n.2570_2571del
XR_943450.3:n.2160_2161del
XR_943451.3:n.2176_2177del
XR_943452.3:n.2121_2122del
NM_001320415.2:c.*1309_*1310del NP_001307344.1:n.*1309_*1310del
NM_002382.5:c.*1309_*1310del MANE Select NP_002373.3:n.*1309_*1310del
NM_145112.3:c.*1309_*1310del NP_660087.1:n.*1309_*1310del
NM_145113.3:c.*1581_*1582del NP_660088.1:n.*1581_*1582del
NM_001271069.2:c.144+18541_144+18542del NP_001257998.1:n.144+18541_144+18542del
NM_197957.4:c.171+18541_171+18542del NP_932061.1:n.171+18541_171+18542del