Canonical Allele Identifier: CA2625288825

Gene: MAX

Linked Data

• gnomAD v4: 14-65075216-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075221dup , CM000676.2:g.65075221dup	GRCh38
NC_000014.8:g.65541939dup , CM000676.1:g.65541939dup	GRCh37
NC_000014.7:g.64611692dup	NCBI36
NG_029830.1:g.32293dup , LRG_530:g.32293dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*2195dup	ENSP00000452378.1:n.*2195dup
ENST00000358664.9:c.*1259dup MANE Select	ENSP00000351490.4:n.*1259dup
ENST00000651648.1:c.145-4848dup	ENSP00000498863.1:n.145-4848dup
ENST00000284165.10:c.*2586dup	ENSP00000284165.6:n.*2586dup
ENST00000341653.6:c.171+18491dup	ENSP00000342482.2:n.171+18491dup
ENST00000358402.8:c.*1259dup	ENSP00000351175.4:n.*1259dup
ENST00000394606.6:c.*1515dup	ENSP00000378104.2:n.*1515dup
ENST00000555932.5:c.*1234dup	ENSP00000450763.1:n.*1234dup
ENST00000618858.4:c.*1531dup	ENSP00000480127.1:n.*1531dup
NM_001271069.1:c.144+18491dup	NP_001257998.1:n.144+18491dup
NM_002382.4:c.*1259dup	NP_002373.3:n.*1259dup
NM_145112.2:c.*1259dup	NP_660087.1:n.*1259dup
NM_145113.2:c.*1531dup	NP_660088.1:n.*1531dup
NM_197957.3:c.171+18491dup	NP_932061.1:n.171+18491dup
NR_073137.1:n.1866dup
XR_429315.2:n.2029dup
NM_001320415.1:c.*1259dup	NP_001307344.1:n.*1259dup
XM_017021312.2:c.*1259dup	XP_016876801.1:n.*1259dup
XM_017021313.1:c.*1259dup	XP_016876802.1:n.*1259dup
XR_001750326.2:n.2087dup
XR_001750327.2:n.2006dup
XR_002957553.1:n.2520dup
XR_943450.3:n.2110dup
XR_943451.3:n.2126dup
XR_943452.3:n.2071dup
NM_001320415.2:c.*1259dup	NP_001307344.1:n.*1259dup
NM_002382.5:c.*1259dup MANE Select	NP_002373.3:n.*1259dup
NM_145112.3:c.*1259dup	NP_660087.1:n.*1259dup
NM_145113.3:c.*1531dup	NP_660088.1:n.*1531dup
NM_001271069.2:c.144+18491dup	NP_001257998.1:n.144+18491dup
NM_197957.4:c.171+18491dup	NP_932061.1:n.171+18491dup