Canonical Allele Identifier: CA2625288858

Gene: MAX

Linked Data

• gnomAD v4: 14-65075294-CGGAGTAGGAAAAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075295_65075309del , CM000676.2:g.65075295_65075309del	GRCh38
NC_000014.8:g.65542013_65542027del , CM000676.1:g.65542013_65542027del	GRCh37
NC_000014.7:g.64611766_64611780del	NCBI36
NG_029830.1:g.32201_32215del , LRG_530:g.32201_32215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2103_*2117del	ENSP00000452378.1:n.*2103_*2117del
ENST00000358664.9:c.*1167_*1181del MANE Select	ENSP00000351490.4:n.*1167_*1181del
ENST00000651648.1:c.145-4940_145-4926del	ENSP00000498863.1:n.145-4940_145-4926del
ENST00000284165.10:c.*2494_*2508del	ENSP00000284165.6:n.*2494_*2508del
ENST00000341653.6:c.171+18399_171+18413del	ENSP00000342482.2:n.171+18399_171+18413del
ENST00000358402.8:c.*1167_*1181del	ENSP00000351175.4:n.*1167_*1181del
ENST00000394606.6:c.*1423_*1437del	ENSP00000378104.2:n.*1423_*1437del
ENST00000555932.5:c.*1142_*1156del	ENSP00000450763.1:n.*1142_*1156del
ENST00000618858.4:c.*1439_*1453del	ENSP00000480127.1:n.*1439_*1453del
NM_001271069.1:c.144+18399_144+18413del	NP_001257998.1:n.144+18399_144+18413del
NM_002382.4:c.*1167_*1181del	NP_002373.3:n.*1167_*1181del
NM_145112.2:c.*1167_*1181del	NP_660087.1:n.*1167_*1181del
NM_145113.2:c.*1439_*1453del	NP_660088.1:n.*1439_*1453del
NM_197957.3:c.171+18399_171+18413del	NP_932061.1:n.171+18399_171+18413del
NR_073137.1:n.1774_1788del
XR_429315.2:n.1937_1951del
NM_001320415.1:c.*1167_*1181del	NP_001307344.1:n.*1167_*1181del
XM_017021312.2:c.*1167_*1181del	XP_016876801.1:n.*1167_*1181del
XM_017021313.1:c.*1167_*1181del	XP_016876802.1:n.*1167_*1181del
XR_001750326.2:n.1995_2009del
XR_001750327.2:n.1914_1928del
XR_002957553.1:n.2428_2442del
XR_943450.3:n.2018_2032del
XR_943451.3:n.2034_2048del
XR_943452.3:n.1979_1993del
NM_001320415.2:c.*1167_*1181del	NP_001307344.1:n.*1167_*1181del
NM_002382.5:c.*1167_*1181del MANE Select	NP_002373.3:n.*1167_*1181del
NM_145112.3:c.*1167_*1181del	NP_660087.1:n.*1167_*1181del
NM_145113.3:c.*1439_*1453del	NP_660088.1:n.*1439_*1453del
NM_001271069.2:c.144+18399_144+18413del	NP_001257998.1:n.144+18399_144+18413del
NM_197957.4:c.171+18399_171+18413del	NP_932061.1:n.171+18399_171+18413del