Canonical Allele Identifier: CA2594713846

Gene: MAX

Linked Data

• gnomAD v3: 14-65102449-T-TCACTCACTCACTCACTCGCTCTCTCACTCACACACACACA
• gnomAD v4: 14-65102449-T-TCACTCACTCACTCACTCGCTCTCTCACTCACACACACACA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65102452_65102491dup , CM000676.2:g.65102452_65102491dup	GRCh38
NC_000014.8:g.65569170_65569209dup , CM000676.1:g.65569170_65569209dup	GRCh37
NC_000014.7:g.64638923_64638962dup	NCBI36
NG_029830.1:g.5021_5060dup , LRG_530:g.5021_5060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-157+20_-157+59dup	ENSP00000452206.2:n.-157+20_-157+59dup
ENST00000556979.6:c.-150_-111dup	ENSP00000452378.1:n.-150_-111dup
ENST00000358664.9:c.-150_-111dup MANE Select	ENSP00000351490.4:n.-150_-111dup
ENST00000246163.2:c.-150_-111dup	ENSP00000246163.2:n.-150_-111dup
ENST00000358402.8:c.-150_-111dup	ENSP00000351175.4:n.-150_-111dup
ENST00000394606.6:c.-150_-111dup	ENSP00000378104.2:n.-150_-111dup
ENST00000554709.1:n.29_68dup
ENST00000555667.5:c.-150_-111dup	ENSP00000452286.1:n.-150_-111dup
ENST00000556443.5:c.-150_-111dup	ENSP00000450818.1:n.-150_-111dup
ENST00000556892.5:c.-157+20_-157+59dup	ENSP00000452206.1:n.-157+20_-157+59dup
ENST00000556979.5:c.-150_-111dup	ENSP00000452378.1:n.-150_-111dup
ENST00000557277.5:c.-239+20_-239+59dup	ENSP00000450955.1:n.-239+20_-239+59dup
ENST00000557746.5:c.-150_-111dup	ENSP00000452197.1:n.-150_-111dup
ENST00000618858.4:c.-150_-111dup	ENSP00000480127.1:n.-150_-111dup
NM_001271068.1:c.-150_-111dup	NP_001257997.1:n.-150_-111dup
NM_001271069.1:c.-150_-111dup	NP_001257998.1:n.-150_-111dup
NM_002382.4:c.-150_-111dup	NP_002373.3:n.-150_-111dup
NM_145112.2:c.-150_-111dup	NP_660087.1:n.-150_-111dup
NM_145113.2:c.-150_-111dup	NP_660088.1:n.-150_-111dup
NM_145114.2:c.-150_-111dup	NP_660089.1:n.-150_-111dup
NM_197957.3:c.-150_-111dup	NP_932061.1:n.-150_-111dup
NR_073137.1:n.187+20_187+59dup
NR_073138.1:n.187+20_187+59dup
XM_011536773.1:c.-150_-111dup	XP_011535075.1:n.-150_-111dup
XR_429315.2:n.53_92dup
XR_943450.1:n.53_92dup
XR_943451.1:n.53_92dup
XR_943452.1:n.42_81dup
NM_001320415.1:c.-424_-385dup	NP_001307344.1:n.-424_-385dup
XM_011536773.3:c.-150_-111dup	XP_011535075.1:n.-150_-111dup
XM_017021312.2:c.-397_-358dup	XP_016876801.1:n.-397_-358dup
XR_001750326.2:n.41_80dup
XR_001750327.2:n.41_80dup
XR_002957553.1:n.44_83dup
XR_943450.3:n.53_92dup
XR_943451.3:n.53_92dup
XR_943452.3:n.41_80dup
NM_001320415.2:c.-424_-385dup	NP_001307344.1:n.-424_-385dup
NM_002382.5:c.-150_-111dup MANE Select	NP_002373.3:n.-150_-111dup
NM_145112.3:c.-150_-111dup	NP_660087.1:n.-150_-111dup
NM_145113.3:c.-150_-111dup	NP_660088.1:n.-150_-111dup
NM_001271068.2:c.-150_-111dup	NP_001257997.1:n.-150_-111dup
NM_001271069.2:c.-150_-111dup	NP_001257998.1:n.-150_-111dup
NM_145114.3:c.-150_-111dup	NP_660089.1:n.-150_-111dup
NM_197957.4:c.-150_-111dup	NP_932061.1:n.-150_-111dup