Canonical Allele Identifier: CA964079380

Gene: MAX

Linked Data

• dbSNP Id: rs2063028224
• gnomAD v3: 14-65075255-ACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG-A
• gnomAD v4: 14-65075255-ACTACAGAGTATACACTAGAAATCAGCAAATGCCAGGAACGGAGTAGGAAAAAGACAAAGAAATGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075257_65075323del , CM000676.2:g.65075257_65075323del	GRCh38
NC_000014.8:g.65541975_65542041del , CM000676.1:g.65541975_65542041del	GRCh37
NC_000014.7:g.64611728_64611794del	NCBI36
NG_029830.1:g.32188_32254del , LRG_530:g.32188_32254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2090_*2156del	ENSP00000452378.1:n.*2090_*2156del
ENST00000358664.9:c.*1154_*1220del MANE Select	ENSP00000351490.4:n.*1154_*1220del
ENST00000651648.1:c.145-4953_145-4887del	ENSP00000498863.1:n.145-4953_145-4887del
ENST00000284165.10:c.*2481_*2547del	ENSP00000284165.6:n.*2481_*2547del
ENST00000341653.6:c.171+18386_171+18452del	ENSP00000342482.2:n.171+18386_171+18452del
ENST00000358402.8:c.*1154_*1220del	ENSP00000351175.4:n.*1154_*1220del
ENST00000394606.6:c.*1410_*1476del	ENSP00000378104.2:n.*1410_*1476del
ENST00000555932.5:c.*1129_*1195del	ENSP00000450763.1:n.*1129_*1195del
ENST00000618858.4:c.*1426_*1492del	ENSP00000480127.1:n.*1426_*1492del
NM_001271069.1:c.144+18386_144+18452del	NP_001257998.1:n.144+18386_144+18452del
NM_002382.4:c.*1154_*1220del	NP_002373.3:n.*1154_*1220del
NM_145112.2:c.*1154_*1220del	NP_660087.1:n.*1154_*1220del
NM_145113.2:c.*1426_*1492del	NP_660088.1:n.*1426_*1492del
NM_197957.3:c.171+18386_171+18452del	NP_932061.1:n.171+18386_171+18452del
NR_073137.1:n.1761_1827del
XR_429315.2:n.1924_1990del
NM_001320415.1:c.*1154_*1220del	NP_001307344.1:n.*1154_*1220del
XM_017021312.2:c.*1154_*1220del	XP_016876801.1:n.*1154_*1220del
XM_017021313.1:c.*1154_*1220del	XP_016876802.1:n.*1154_*1220del
XR_001750326.2:n.1982_2048del
XR_001750327.2:n.1901_1967del
XR_002957553.1:n.2415_2481del
XR_943450.3:n.2005_2071del
XR_943451.3:n.2021_2087del
XR_943452.3:n.1966_2032del
NM_001320415.2:c.*1154_*1220del	NP_001307344.1:n.*1154_*1220del
NM_002382.5:c.*1154_*1220del MANE Select	NP_002373.3:n.*1154_*1220del
NM_145112.3:c.*1154_*1220del	NP_660087.1:n.*1154_*1220del
NM_145113.3:c.*1426_*1492del	NP_660088.1:n.*1426_*1492del
NM_001271069.2:c.144+18386_144+18452del	NP_001257998.1:n.144+18386_144+18452del
NM_197957.4:c.171+18386_171+18452del	NP_932061.1:n.171+18386_171+18452del