Canonical Allele Identifier: CA2142951033
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075255_65075322delinsACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG , CM000676.2:g.65075255_65075322delinsACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG GRCh38
NC_000014.8:g.65541973_65542040delinsACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG , CM000676.1:g.65541973_65542040delinsACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG GRCh37
NC_000014.7:g.64611726_64611793delinsACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG NCBI36
NG_029830.1:g.32188_32255delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT , LRG_530:g.32188_32255delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000556979.6:c.*2090_*2157delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000452378.1:n.*2090_*2157delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000358664.9:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT MANE Select ENSP00000351490.4:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000651648.1:c.145-4953_145-4886delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000498863.1:n.145-4953_145-4886delinsCCTCATTTCTTTGTCTTT...
ENST00000284165.10:c.*2481_*2548delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000284165.6:n.*2481_*2548delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000341653.6:c.171+18386_171+18453delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000342482.2:n.171+18386_171+18453delinsCCTCATTTCTTTGTCT...
ENST00000358402.8:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000351175.4:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000394606.6:c.*1410_*1477delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000378104.2:n.*1410_*1477delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000555932.5:c.*1129_*1196delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000450763.1:n.*1129_*1196delinsCCTCATTTCTTTGTCTTTTTCCTA...
ENST00000618858.4:c.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT ENSP00000480127.1:n.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTA...
NM_001271069.1:c.144+18386_144+18453delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_001257998.1:n.144+18386_144+18453delinsCCTCATTTCTTTGTCTTTT...
NM_002382.4:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_002373.3:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_145112.2:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_660087.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_145113.2:c.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_660088.1:n.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_197957.3:c.171+18386_171+18453delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_932061.1:n.171+18386_171+18453delinsCCTCATTTCTTTGTCTTTTTCC...
NR_073137.1:n.1761_1828delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_429315.2:n.1924_1991delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
NM_001320415.1:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_001307344.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTC...
XM_017021312.2:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT XP_016876801.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTC...
XM_017021313.1:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT XP_016876802.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTC...
XR_001750326.2:n.1982_2049delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_001750327.2:n.1901_1968delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_002957553.1:n.2415_2482delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_943450.3:n.2005_2072delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_943451.3:n.2021_2088delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
XR_943452.3:n.1966_2033delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT
NM_001320415.2:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_001307344.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTC...
NM_002382.5:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT MANE Select NP_002373.3:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_145112.3:c.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_660087.1:n.*1154_*1221delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_145113.3:c.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_660088.1:n.*1426_*1493delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGT...
NM_001271069.2:c.144+18386_144+18453delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_001257998.1:n.144+18386_144+18453delinsCCTCATTTCTTTGTCTTTT...
NM_197957.4:c.171+18386_171+18453delinsCCTCATTTCTTTGTCTTTTTCCTACTCCGTTCCTGGCATTTGCTGATTTCTAGTGTATACTCTGTAGT NP_932061.1:n.171+18386_171+18453delinsCCTCATTTCTTTGTCTTTTTCC...