Canonical Allele Identifier: CA2142970508

Gene: MAX

Linked Data

• ClinVar Variation Id: 1009135
• ClinVar RCV Id: RCV001306577
• dbSNP Id: rs2063874960

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65102325_65102327del , CM000676.2:g.65102325_65102327del	GRCh38
NC_000014.8:g.65569043_65569045del , CM000676.1:g.65569043_65569045del	GRCh37
NC_000014.7:g.64638796_64638798del	NCBI36
NG_029830.1:g.5185_5187del , LRG_530:g.5185_5187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.-157+184_-157+186del	ENSP00000452206.2:n.-157+184_-157+186del
ENST00000556979.6:c.15_17del	ENSP00000452378.1:p.Asp6del
ENST00000358664.9:c.15_17del MANE Select	ENSP00000351490.4:p.Asp6del
ENST00000651648.1:c.15_17del	ENSP00000498863.1:p.Asp6del
ENST00000246163.2:c.15_17del	ENSP00000246163.2:p.Asp6del
ENST00000284165.10:c.15_17del	ENSP00000284165.6:p.Asp6del
ENST00000341653.6:c.15_17del	ENSP00000342482.2:p.Asp6del
ENST00000358402.8:c.15_17del	ENSP00000351175.4:p.Asp6del
ENST00000358664.8:c.15_17del	ENSP00000351490.4:p.Asp6del
ENST00000394606.6:c.15_17del	ENSP00000378104.2:p.Asp6del
ENST00000553928.5:c.15_17del	ENSP00000451907.1:p.Asp6del
ENST00000554709.1:n.193_195del
ENST00000555419.5:c.15_17del	ENSP00000452405.1:p.Asp6del
ENST00000555667.5:c.15_17del	ENSP00000452286.1:p.Asp6del
ENST00000555932.5:c.15_17del	ENSP00000450763.1:p.Asp6del
ENST00000556443.5:c.15_17del	ENSP00000450818.1:p.Asp6del
ENST00000556702.1:n.154_156del
ENST00000556892.5:c.-157+184_-157+186del	ENSP00000452206.1:n.-157+184_-157+186del
ENST00000556979.5:c.15_17del	ENSP00000452378.1:p.Asp6del
ENST00000557277.5:c.-239+184_-239+186del	ENSP00000450955.1:n.-239+184_-239+186del
ENST00000557746.5:c.15_17del	ENSP00000452197.1:p.Asp6del
ENST00000618858.4:c.15_17del	ENSP00000480127.1:p.Asp6del
NM_001271068.1:c.15_17del	NP_001257997.1:p.Asp6del
NM_001271069.1:c.15_17del	NP_001257998.1:p.Asp6del
NM_002382.4:c.15_17del	NP_002373.3:p.Asp6del
NM_145112.2:c.15_17del	NP_660087.1:p.Asp6del
NM_145113.2:c.15_17del	NP_660088.1:p.Asp6del
NM_145114.2:c.15_17del	NP_660089.1:p.Asp6del
NM_197957.3:c.15_17del	NP_932061.1:p.Asp6del
NR_073137.1:n.187+184_187+186del
NR_073138.1:n.187+184_187+186del
XM_011536773.1:c.15_17del	XP_011535075.1:p.Asp6del
XR_429315.2:n.217_219del
XR_943450.1:n.217_219del
XR_943451.1:n.217_219del
XR_943452.1:n.206_208del
NM_001320415.1:c.-260_-258del	NP_001307344.1:n.-260_-258del
XM_011536773.3:c.15_17del	XP_011535075.1:p.Asp6del
XM_017021312.2:c.-233_-231del	XP_016876801.1:n.-233_-231del
XR_001750326.2:n.205_207del
XR_001750327.2:n.205_207del
XR_002957553.1:n.208_210del
XR_943450.3:n.217_219del
XR_943451.3:n.217_219del
XR_943452.3:n.205_207del
NM_001320415.2:c.-260_-258del	NP_001307344.1:n.-260_-258del
NM_002382.5:c.15_17del MANE Select	NP_002373.3:p.Asp6del
NM_145112.3:c.15_17del	NP_660087.1:p.Asp6del
NM_145113.3:c.15_17del	NP_660088.1:p.Asp6del
NM_001271068.2:c.15_17del	NP_001257997.1:p.Asp6del
NM_001271069.2:c.15_17del	NP_001257998.1:p.Asp6del
NM_145114.3:c.15_17del	NP_660089.1:p.Asp6del
NM_197957.4:c.15_17del	NP_932061.1:p.Asp6del