Canonical Allele Identifier: CA2625288881

Gene: MAX

Linked Data

• gnomAD v4: 14-65075327-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075333_65075334del , CM000676.2:g.65075333_65075334del	GRCh38
NC_000014.8:g.65542051_65542052del , CM000676.1:g.65542051_65542052del	GRCh37
NC_000014.7:g.64611804_64611805del	NCBI36
NG_029830.1:g.32181_32182del , LRG_530:g.32181_32182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2083_*2084del	ENSP00000452378.1:n.*2083_*2084del
ENST00000358664.9:c.*1147_*1148del MANE Select	ENSP00000351490.4:n.*1147_*1148del
ENST00000651648.1:c.145-4960_145-4959del	ENSP00000498863.1:n.145-4960_145-4959del
ENST00000284165.10:c.*2474_*2475del	ENSP00000284165.6:n.*2474_*2475del
ENST00000341653.6:c.171+18379_171+18380del	ENSP00000342482.2:n.171+18379_171+18380del
ENST00000358402.8:c.*1147_*1148del	ENSP00000351175.4:n.*1147_*1148del
ENST00000394606.6:c.*1403_*1404del	ENSP00000378104.2:n.*1403_*1404del
ENST00000555932.5:c.*1122_*1123del	ENSP00000450763.1:n.*1122_*1123del
ENST00000618858.4:c.*1419_*1420del	ENSP00000480127.1:n.*1419_*1420del
NM_001271069.1:c.144+18379_144+18380del	NP_001257998.1:n.144+18379_144+18380del
NM_002382.4:c.*1147_*1148del	NP_002373.3:n.*1147_*1148del
NM_145112.2:c.*1147_*1148del	NP_660087.1:n.*1147_*1148del
NM_145113.2:c.*1419_*1420del	NP_660088.1:n.*1419_*1420del
NM_197957.3:c.171+18379_171+18380del	NP_932061.1:n.171+18379_171+18380del
NR_073137.1:n.1754_1755del
XR_429315.2:n.1917_1918del
NM_001320415.1:c.*1147_*1148del	NP_001307344.1:n.*1147_*1148del
XM_017021312.2:c.*1147_*1148del	XP_016876801.1:n.*1147_*1148del
XM_017021313.1:c.*1147_*1148del	XP_016876802.1:n.*1147_*1148del
XR_001750326.2:n.1975_1976del
XR_001750327.2:n.1894_1895del
XR_002957553.1:n.2408_2409del
XR_943450.3:n.1998_1999del
XR_943451.3:n.2014_2015del
XR_943452.3:n.1959_1960del
NM_001320415.2:c.*1147_*1148del	NP_001307344.1:n.*1147_*1148del
NM_002382.5:c.*1147_*1148del MANE Select	NP_002373.3:n.*1147_*1148del
NM_145112.3:c.*1147_*1148del	NP_660087.1:n.*1147_*1148del
NM_145113.3:c.*1419_*1420del	NP_660088.1:n.*1419_*1420del
NM_001271069.2:c.144+18379_144+18380del	NP_001257998.1:n.144+18379_144+18380del
NM_197957.4:c.171+18379_171+18380del	NP_932061.1:n.171+18379_171+18380del