Canonical Allele Identifier: CA2625289222

Gene: MAX

Linked Data

• gnomAD v4: 14-65075842-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075845_65075848del , CM000676.2:g.65075845_65075848del	GRCh38
NC_000014.8:g.65542563_65542566del , CM000676.1:g.65542563_65542566del	GRCh37
NC_000014.7:g.64612316_64612319del	NCBI36
NG_029830.1:g.31664_31667del , LRG_530:g.31664_31667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*630_*633del	ENSP00000452206.2:n.*630_*633del
ENST00000556979.6:c.*1566_*1569del	ENSP00000452378.1:n.*1566_*1569del
ENST00000358664.9:c.*630_*633del MANE Select	ENSP00000351490.4:n.*630_*633del
ENST00000651648.1:c.145-5477_145-5474del	ENSP00000498863.1:n.145-5477_145-5474del
ENST00000284165.10:c.*1957_*1960del	ENSP00000284165.6:n.*1957_*1960del
ENST00000341653.6:c.171+17862_171+17865del	ENSP00000342482.2:n.171+17862_171+17865del
ENST00000358402.8:c.*630_*633del	ENSP00000351175.4:n.*630_*633del
ENST00000358664.8:c.*630_*633del	ENSP00000351490.4:n.*630_*633del
ENST00000394606.6:c.*886_*889del	ENSP00000378104.2:n.*886_*889del
ENST00000555932.5:c.*605_*608del	ENSP00000450763.1:n.*605_*608del
ENST00000618858.4:c.*902_*905del	ENSP00000480127.1:n.*902_*905del
NM_001271069.1:c.144+17862_144+17865del	NP_001257998.1:n.144+17862_144+17865del
NM_002382.4:c.*630_*633del	NP_002373.3:n.*630_*633del
NM_145112.2:c.*630_*633del	NP_660087.1:n.*630_*633del
NM_145113.2:c.*902_*905del	NP_660088.1:n.*902_*905del
NM_197957.3:c.171+17862_171+17865del	NP_932061.1:n.171+17862_171+17865del
NR_073137.1:n.1237_1240del
XR_429315.2:n.1400_1403del
NM_001320415.1:c.*630_*633del	NP_001307344.1:n.*630_*633del
XM_017021312.2:c.*630_*633del	XP_016876801.1:n.*630_*633del
XM_017021313.1:c.*630_*633del	XP_016876802.1:n.*630_*633del
XR_001750326.2:n.1458_1461del
XR_001750327.2:n.1377_1380del
XR_002957553.1:n.1891_1894del
XR_943450.3:n.1481_1484del
XR_943451.3:n.1497_1500del
XR_943452.3:n.1442_1445del
NM_001320415.2:c.*630_*633del	NP_001307344.1:n.*630_*633del
NM_002382.5:c.*630_*633del MANE Select	NP_002373.3:n.*630_*633del
NM_145112.3:c.*630_*633del	NP_660087.1:n.*630_*633del
NM_145113.3:c.*902_*905del	NP_660088.1:n.*902_*905del
NM_001271069.2:c.144+17862_144+17865del	NP_001257998.1:n.144+17862_144+17865del
NM_197957.4:c.171+17862_171+17865del	NP_932061.1:n.171+17862_171+17865del