Canonical Allele Identifier: CA2575554477
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076534del , CM000676.2:g.65076534del GRCh38
NC_000014.8:g.65543252del , CM000676.1:g.65543252del GRCh37
NC_000014.7:g.64613005del NCBI36
NG_029830.1:g.30976del , LRG_530:g.30976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.206del ENSP00000452206.2:p.Ser69TrpfsTer28
ENST00000556979.6:c.*878del ENSP00000452378.1:n.*878del
ENST00000358664.9:c.425del MANE Select ENSP00000351490.4:p.Ser142TrpfsTer28
ENST00000651648.1:c.145-6165del ENSP00000498863.1:n.145-6165del
ENST00000284165.10:c.*1269del ENSP00000284165.6:n.*1269del
ENST00000341653.6:c.171+17174del ENSP00000342482.2:n.171+17174del
ENST00000358402.8:c.398del ENSP00000351175.4:p.Ser133TrpfsTer28
ENST00000358664.8:c.425del ENSP00000351490.4:p.Ser142TrpfsTer28
ENST00000394606.6:c.*198del ENSP00000378104.2:n.*198del
ENST00000553928.5:c.*214del ENSP00000451907.1:n.*214del
ENST00000555419.5:c.317del ENSP00000452405.1:p.Ser106TrpfsTer28
ENST00000555932.5:c.166del ENSP00000450763.1:p.Arg56GlyfsTer3
ENST00000557277.5:c.236del ENSP00000450955.1:p.Ser79TrpfsTer?
ENST00000618858.4:c.*214del ENSP00000480127.1:n.*214del
NM_001271069.1:c.144+17174del NP_001257998.1:n.144+17174del
NM_002382.4:c.425del NP_002373.3:p.Ser142TrpfsTer28
NM_145112.2:c.398del NP_660087.1:p.Ser133TrpfsTer28
NM_145113.2:c.*214del NP_660088.1:n.*214del
NM_197957.3:c.171+17174del NP_932061.1:n.171+17174del
NR_073137.1:n.549del
XR_429315.2:n.712del
NM_001320415.1:c.236del NP_001307344.1:p.Ser79TrpfsTer28
XM_017021312.2:c.236del XP_016876801.1:p.Ser79TrpfsTer28
XM_017021313.1:c.236del XP_016876802.1:p.Ser79TrpfsTer28
XR_001750326.2:n.770del
XR_001750327.2:n.689del
XR_002957553.1:n.1203del
XR_943450.3:n.793del
XR_943451.3:n.809del
XR_943452.3:n.754del
NM_001320415.2:c.236del NP_001307344.1:p.Ser79TrpfsTer28
NM_002382.5:c.425del MANE Select NP_002373.3:p.Ser142TrpfsTer28
NM_145112.3:c.398del NP_660087.1:p.Ser133TrpfsTer28
NM_145113.3:c.*214del NP_660088.1:n.*214del
NM_001271069.2:c.144+17174del NP_001257998.1:n.144+17174del
NM_197957.4:c.171+17174del NP_932061.1:n.171+17174del