Canonical Allele Identifier: CA16614204
Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 404110
ClinVar RCV Id: RCV000461175
dbSNP Id: rs1060500101

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65077991_65078001del , CM000676.2:g.65077991_65078001del GRCh38
NC_000014.8:g.65544709_65544719del , CM000676.1:g.65544709_65544719del GRCh37
NC_000014.7:g.64614462_64614472del NCBI36
NG_029830.1:g.29513_29523del , LRG_530:g.29513_29523del

Transcript Alleles

HGVS Amino-acid change
ENST00000556892.6:c.-9_2del ENSP00000452206.2:n.-9_2del
ENST00000556979.6:c.211_221del ENSP00000452378.1:p.Ile71AlafsTer12
ENST00000358664.9:c.211_221del MANE Select ENSP00000351490.4:p.Ile71AlafsTer12
ENST00000651648.1:c.145-7628_145-7618del ENSP00000498863.1:n.145-7628_145-7618del
ENST00000284165.10:c.211_221del ENSP00000284165.6:p.Ile71AlafsTer12
ENST00000341653.6:c.171+15711_171+15721del ENSP00000342482.2:n.171+15711_171+15721de...
ENST00000358402.8:c.184_194del ENSP00000351175.4:p.Ile62AlafsTer12
ENST00000358664.8:c.211_221del ENSP00000351490.4:p.Ile71AlafsTer12
ENST00000394606.6:c.211_221del ENSP00000378104.2:p.Ile71AlafsTer12
ENST00000553928.5:c.211_221del ENSP00000451907.1:p.Ile71AlafsTer12
ENST00000553951.1:n.288_298del
ENST00000555419.5:c.103_113del ENSP00000452405.1:p.Ile35AlafsTer12
ENST00000555667.5:c.184_194del ENSP00000452286.1:p.Ile62AlafsTer12
ENST00000555932.5:c.37-1334_37-1324del ENSP00000450763.1:n.37-1334_37-1324del
ENST00000556443.5:c.184_194del ENSP00000450818.1:p.Ile62AlafsTer12
ENST00000556892.5:c.-9_2del ENSP00000452206.1:n.-9_2del
ENST00000556979.5:c.211_221del ENSP00000452378.1:p.Ile71AlafsTer12
ENST00000557277.5:c.-64_-54del ENSP00000450955.1:n.-64_-54del
ENST00000557746.5:c.184_194del ENSP00000452197.1:p.Ile62AlafsTer12
ENST00000618858.4:c.211_221del ENSP00000480127.1:p.Ile71AlafsTer12
NM_001271069.1:c.144+15711_144+15721del NP_001257998.1:n.144+15711_144+15721del
NM_002382.4:c.211_221del NP_002373.3:p.Ile71AlafsTer12
NM_145112.2:c.184_194del NP_660087.1:p.Ile62AlafsTer12
NM_145113.2:c.211_221del NP_660088.1:p.Ile71AlafsTer12
NM_197957.3:c.171+15711_171+15721del NP_932061.1:n.171+15711_171+15721del
NR_073137.1:n.335_345del
XM_011536773.1:c.211_221del XP_011535075.1:p.Ile71AlafsTer12
XR_429315.2:n.413_423del
XR_943450.1:n.413_423del
XR_943451.1:n.413_423del
XR_943452.1:n.375_385del
NM_001320415.1:c.-64_-54del NP_001307344.1:n.-64_-54del
XM_011536773.3:c.211_221del XP_011535075.1:p.Ile71AlafsTer12
XM_017021312.2:c.-64_-54del XP_016876801.1:n.-64_-54del
XM_017021313.1:c.-64_-54del XP_016876802.1:n.-64_-54del
XR_001750326.2:n.374_384del
XR_001750327.2:n.374_384del
XR_002957553.1:n.404_414del
XR_943450.3:n.413_423del
XR_943451.3:n.413_423del
XR_943452.3:n.374_384del
NM_001320415.2:c.-64_-54del NP_001307344.1:n.-64_-54del
NM_002382.5:c.211_221del MANE Select NP_002373.3:p.Ile71AlafsTer12
NM_145112.3:c.184_194del NP_660087.1:p.Ile62AlafsTer12
NM_145113.3:c.211_221del NP_660088.1:p.Ile71AlafsTer12
NM_001271069.2:c.144+15711_144+15721del NP_001257998.1:n.144+15711_144+15721del
NM_197957.4:c.171+15711_171+15721del NP_932061.1:n.171+15711_171+15721del