Canonical Allele Identifier: CA2142951409
Gene: MAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076077_65076129delinsAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT , CM000676.2:g.65076077_65076129delinsAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT GRCh38
NC_000014.8:g.65542795_65542847delinsAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT , CM000676.1:g.65542795_65542847delinsAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT GRCh37
NC_000014.7:g.64612548_64612600delinsAGGAGGCCACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT NCBI36
NG_029830.1:g.31381_31433delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT , LRG_530:g.31381_31433delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000452206.2:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000556979.6:c.*1283_*1335delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000452378.1:n.*1283_*1335delinsAGCCCTGCCGGGCACATGCCCGGG...
ENST00000358664.9:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT MANE Select ENSP00000351490.4:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000651648.1:c.145-5760_145-5708delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000498863.1:n.145-5760_145-5708delinsAGCCCTGCCGGGCACATG...
ENST00000284165.10:c.*1674_*1726delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000284165.6:n.*1674_*1726delinsAGCCCTGCCGGGCACATGCCCGGG...
ENST00000341653.6:c.171+17579_171+17631delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000342482.2:n.171+17579_171+17631delinsAGCCCTGCCGGGCACA...
ENST00000358402.8:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000351175.4:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000358664.8:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000351490.4:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000394606.6:c.*603_*655delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000378104.2:n.*603_*655delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000555932.5:c.*322_*374delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000450763.1:n.*322_*374delinsAGCCCTGCCGGGCACATGCCCGGGGG...
ENST00000618858.4:c.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT ENSP00000480127.1:n.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGG...
NM_001271069.1:c.144+17579_144+17631delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_001257998.1:n.144+17579_144+17631delinsAGCCCTGCCGGGCACATGC...
NM_002382.4:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_002373.3:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_145112.2:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_660087.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_145113.2:c.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_660088.1:n.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_197957.3:c.171+17579_171+17631delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_932061.1:n.171+17579_171+17631delinsAGCCCTGCCGGGCACATGCCCG...
NR_073137.1:n.954_1006delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_429315.2:n.1117_1169delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
NM_001320415.1:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_001307344.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACG...
XM_017021312.2:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT XP_016876801.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACG...
XM_017021313.1:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT XP_016876802.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACG...
XR_001750326.2:n.1175_1227delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_001750327.2:n.1094_1146delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_002957553.1:n.1608_1660delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_943450.3:n.1198_1250delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_943451.3:n.1214_1266delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
XR_943452.3:n.1159_1211delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT
NM_001320415.2:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_001307344.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACG...
NM_002382.5:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT MANE Select NP_002373.3:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_145112.3:c.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_660087.1:n.*347_*399delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_145113.3:c.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_660088.1:n.*619_*671delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCT...
NM_001271069.2:c.144+17579_144+17631delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_001257998.1:n.144+17579_144+17631delinsAGCCCTGCCGGGCACATGC...
NM_197957.4:c.171+17579_171+17631delinsAGCCCTGCCGGGCACATGCCCGGGGGACGCCTGCCCTGCCCAGGTGGCCTCCT NP_932061.1:n.171+17579_171+17631delinsAGCCCTGCCGGGCACATGCCCG...