Canonical Allele Identifier: CA166109

Gene: MAX

Linked Data

• ClinVar Variation Id: 141678
• ClinVar RCV Id: RCV000130290 ; RCV000657300
• dbSNP Id: rs587781931
• MyVariant Identifiers: chr14:g.65544693dupT (hg19) ; chr14:g.65544692_65544693insT (hg19) ; chr14:g.65077975dupT (hg38) ; chr14:g.65077974_65077975insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077979dup , CM000676.2:g.65077979dup	GRCh38
NC_000014.8:g.65544697dup , CM000676.1:g.65544697dup	GRCh37
NC_000014.7:g.64614450dup	NCBI36
NG_029830.1:g.29535dup , LRG_530:g.29535dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.14dup	ENSP00000452206.2:p.Asn5LysfsTer9
ENST00000556979.6:c.233dup	ENSP00000452378.1:p.Asn78LysfsTer9
ENST00000358664.9:c.233dup MANE Select	ENSP00000351490.4:p.Asn78LysfsTer9
ENST00000651648.1:c.145-7606dup	ENSP00000498863.1:n.145-7606dup
ENST00000284165.10:c.233dup	ENSP00000284165.6:p.Asn78LysfsTer9
ENST00000341653.6:c.171+15733dup	ENSP00000342482.2:n.171+15733dup
ENST00000358402.8:c.206dup	ENSP00000351175.4:p.Asn69LysfsTer9
ENST00000358664.8:c.233dup	ENSP00000351490.4:p.Asn78LysfsTer9
ENST00000394606.6:c.233dup	ENSP00000378104.2:p.Asn78LysfsTer9
ENST00000553928.5:c.233dup	ENSP00000451907.1:p.Asn78LysfsTer9
ENST00000553951.1:n.310dup
ENST00000555419.5:c.125dup	ENSP00000452405.1:p.Asn42LysfsTer9
ENST00000555667.5:c.206dup	ENSP00000452286.1:p.Asn69LysfsTer9
ENST00000555932.5:c.37-1312dup	ENSP00000450763.1:n.37-1312dup
ENST00000556443.5:c.206dup	ENSP00000450818.1:p.Asn69LysfsTer9
ENST00000556892.5:c.14dup	ENSP00000452206.1:p.Asn5LysfsTer9
ENST00000556979.5:c.233dup	ENSP00000452378.1:p.Asn78LysfsTer9
ENST00000557277.5:c.-42dup	ENSP00000450955.1:n.-42dup
ENST00000557746.5:c.206dup	ENSP00000452197.1:p.Asn69LysfsTer9
ENST00000618858.4:c.233dup	ENSP00000480127.1:p.Asn78LysfsTer9
NM_001271069.1:c.144+15733dup	NP_001257998.1:n.144+15733dup
NM_002382.4:c.233dup	NP_002373.3:p.Asn78LysfsTer9
NM_145112.2:c.206dup	NP_660087.1:p.Asn69LysfsTer9
NM_145113.2:c.233dup	NP_660088.1:p.Asn78LysfsTer9
NM_197957.3:c.171+15733dup	NP_932061.1:n.171+15733dup
NR_073137.1:n.357dup
XM_011536773.1:c.233dup	XP_011535075.1:p.Asn78LysfsTer9
XR_429315.2:n.435dup
XR_943450.1:n.435dup
XR_943451.1:n.435dup
XR_943452.1:n.397dup
NM_001320415.1:c.-42dup	NP_001307344.1:n.-42dup
XM_011536773.3:c.233dup	XP_011535075.1:p.Asn78LysfsTer9
XM_017021312.2:c.-42dup	XP_016876801.1:n.-42dup
XM_017021313.1:c.-42dup	XP_016876802.1:n.-42dup
XR_001750326.2:n.396dup
XR_001750327.2:n.396dup
XR_002957553.1:n.426dup
XR_943450.3:n.435dup
XR_943451.3:n.435dup
XR_943452.3:n.396dup
NM_001320415.2:c.-42dup	NP_001307344.1:n.-42dup
NM_002382.5:c.233dup MANE Select	NP_002373.3:p.Asn78LysfsTer9
NM_145112.3:c.206dup	NP_660087.1:p.Asn69LysfsTer9
NM_145113.3:c.233dup	NP_660088.1:p.Asn78LysfsTer9
NM_001271069.2:c.144+15733dup	NP_001257998.1:n.144+15733dup
NM_197957.4:c.171+15733dup	NP_932061.1:n.171+15733dup