Canonical Allele Identifier: CA2142951450
Gene: MAX HGNC NCBI

Linked Data

dbSNP Id: rs2063050282

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65076159_65076160del , CM000676.2:g.65076159_65076160del GRCh38
NC_000014.8:g.65542877_65542878del , CM000676.1:g.65542877_65542878del GRCh37
NC_000014.7:g.64612630_64612631del NCBI36
NG_029830.1:g.31351_31352del , LRG_530:g.31351_31352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000556892.6:c.*317_*318del ENSP00000452206.2:n.*317_*318del
ENST00000556979.6:c.*1253_*1254del ENSP00000452378.1:n.*1253_*1254del
ENST00000358664.9:c.*317_*318del MANE Select ENSP00000351490.4:n.*317_*318del
ENST00000651648.1:c.145-5790_145-5789del ENSP00000498863.1:n.145-5790_145-5789del
ENST00000284165.10:c.*1644_*1645del ENSP00000284165.6:n.*1644_*1645del
ENST00000341653.6:c.171+17549_171+17550del ENSP00000342482.2:n.171+17549_171+17550del
ENST00000358402.8:c.*317_*318del ENSP00000351175.4:n.*317_*318del
ENST00000358664.8:c.*317_*318del ENSP00000351490.4:n.*317_*318del
ENST00000394606.6:c.*573_*574del ENSP00000378104.2:n.*573_*574del
ENST00000555419.5:c.692_693del ENSP00000452405.1:n.692_693del
ENST00000555932.5:c.*292_*293del ENSP00000450763.1:n.*292_*293del
ENST00000618858.4:c.*589_*590del ENSP00000480127.1:n.*589_*590del
NM_001271069.1:c.144+17549_144+17550del NP_001257998.1:n.144+17549_144+17550del
NM_002382.4:c.*317_*318del NP_002373.3:n.*317_*318del
NM_145112.2:c.*317_*318del NP_660087.1:n.*317_*318del
NM_145113.2:c.*589_*590del NP_660088.1:n.*589_*590del
NM_197957.3:c.171+17549_171+17550del NP_932061.1:n.171+17549_171+17550del
NR_073137.1:n.924_925del
XR_429315.2:n.1087_1088del
NM_001320415.1:c.*317_*318del NP_001307344.1:n.*317_*318del
XM_017021312.2:c.*317_*318del XP_016876801.1:n.*317_*318del
XM_017021313.1:c.*317_*318del XP_016876802.1:n.*317_*318del
XR_001750326.2:n.1145_1146del
XR_001750327.2:n.1064_1065del
XR_002957553.1:n.1578_1579del
XR_943450.3:n.1168_1169del
XR_943451.3:n.1184_1185del
XR_943452.3:n.1129_1130del
NM_001320415.2:c.*317_*318del NP_001307344.1:n.*317_*318del
NM_002382.5:c.*317_*318del MANE Select NP_002373.3:n.*317_*318del
NM_145112.3:c.*317_*318del NP_660087.1:n.*317_*318del
NM_145113.3:c.*589_*590del NP_660088.1:n.*589_*590del
NM_001271069.2:c.144+17549_144+17550del NP_001257998.1:n.144+17549_144+17550del
NM_197957.4:c.171+17549_171+17550del NP_932061.1:n.171+17549_171+17550del