Canonical Allele Identifier: CA707762134

Gene: MAX

Linked Data

• dbSNP Id: rs983039906
• gnomAD v3: 14-65102437-C-CCACA
• gnomAD v4: 14-65102437-C-CCACA
• MyVariant Identifiers: chr14:g.65569155_65569156insCACA (hg19) ; chr14:g.65102437_65102438insCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65102445_65102448dup , CM000676.2:g.65102445_65102448dup	GRCh38
NC_000014.8:g.65569163_65569166dup , CM000676.1:g.65569163_65569166dup	GRCh37
NC_000014.7:g.64638916_64638919dup	NCBI36
NG_029830.1:g.5069_5072dup , LRG_530:g.5069_5072dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-157+68_-157+71dup	ENSP00000452206.2:n.-157+68_-157+71dup
ENST00000556979.6:c.-102_-99dup	ENSP00000452378.1:n.-102_-99dup
ENST00000358664.9:c.-102_-99dup MANE Select	ENSP00000351490.4:n.-102_-99dup
ENST00000246163.2:c.-102_-99dup	ENSP00000246163.2:n.-102_-99dup
ENST00000284165.10:c.-102_-99dup	ENSP00000284165.6:n.-102_-99dup
ENST00000358402.8:c.-102_-99dup	ENSP00000351175.4:n.-102_-99dup
ENST00000358664.8:c.-102_-99dup	ENSP00000351490.4:n.-102_-99dup
ENST00000394606.6:c.-102_-99dup	ENSP00000378104.2:n.-102_-99dup
ENST00000554709.1:n.77_80dup
ENST00000555667.5:c.-102_-99dup	ENSP00000452286.1:n.-102_-99dup
ENST00000555932.5:c.-102_-99dup	ENSP00000450763.1:n.-102_-99dup
ENST00000556443.5:c.-102_-99dup	ENSP00000450818.1:n.-102_-99dup
ENST00000556702.1:n.38_41dup
ENST00000556892.5:c.-157+68_-157+71dup	ENSP00000452206.1:n.-157+68_-157+71dup
ENST00000556979.5:c.-102_-99dup	ENSP00000452378.1:n.-102_-99dup
ENST00000557277.5:c.-239+68_-239+71dup	ENSP00000450955.1:n.-239+68_-239+71dup
ENST00000557746.5:c.-102_-99dup	ENSP00000452197.1:n.-102_-99dup
ENST00000618858.4:c.-102_-99dup	ENSP00000480127.1:n.-102_-99dup
NM_001271068.1:c.-102_-99dup	NP_001257997.1:n.-102_-99dup
NM_001271069.1:c.-102_-99dup	NP_001257998.1:n.-102_-99dup
NM_002382.4:c.-102_-99dup	NP_002373.3:n.-102_-99dup
NM_145112.2:c.-102_-99dup	NP_660087.1:n.-102_-99dup
NM_145113.2:c.-102_-99dup	NP_660088.1:n.-102_-99dup
NM_145114.2:c.-102_-99dup	NP_660089.1:n.-102_-99dup
NM_197957.3:c.-102_-99dup	NP_932061.1:n.-102_-99dup
NR_073137.1:n.187+68_187+71dup
NR_073138.1:n.187+68_187+71dup
XM_011536773.1:c.-102_-99dup	XP_011535075.1:n.-102_-99dup
XR_429315.2:n.101_104dup
XR_943450.1:n.101_104dup
XR_943451.1:n.101_104dup
XR_943452.1:n.90_93dup
NM_001320415.1:c.-376_-373dup	NP_001307344.1:n.-376_-373dup
XM_011536773.3:c.-102_-99dup	XP_011535075.1:n.-102_-99dup
XM_017021312.2:c.-349_-346dup	XP_016876801.1:n.-349_-346dup
XR_001750326.2:n.89_92dup
XR_001750327.2:n.89_92dup
XR_002957553.1:n.92_95dup
XR_943450.3:n.101_104dup
XR_943451.3:n.101_104dup
XR_943452.3:n.89_92dup
NM_001320415.2:c.-376_-373dup	NP_001307344.1:n.-376_-373dup
NM_002382.5:c.-102_-99dup MANE Select	NP_002373.3:n.-102_-99dup
NM_145112.3:c.-102_-99dup	NP_660087.1:n.-102_-99dup
NM_145113.3:c.-102_-99dup	NP_660088.1:n.-102_-99dup
NM_001271068.2:c.-102_-99dup	NP_001257997.1:n.-102_-99dup
NM_001271069.2:c.-102_-99dup	NP_001257998.1:n.-102_-99dup
NM_145114.3:c.-102_-99dup	NP_660089.1:n.-102_-99dup
NM_197957.4:c.-102_-99dup	NP_932061.1:n.-102_-99dup