Canonical Allele Identifier: CA2594713677

Gene: MAX

Linked Data

• gnomAD v3: 14-65076085-ACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT-A
• gnomAD v4: 14-65076085-ACCTGGGCAGGGCAGGCGTCCCCCGGGCATGTGCCCGGCAGGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076086_65076129del , CM000676.2:g.65076086_65076129del	GRCh38
NC_000014.8:g.65542804_65542847del , CM000676.1:g.65542804_65542847del	GRCh37
NC_000014.7:g.64612557_64612600del	NCBI36
NG_029830.1:g.31381_31424del , LRG_530:g.31381_31424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*347_*390del	ENSP00000452206.2:n.*347_*390del
ENST00000556979.6:c.*1283_*1326del	ENSP00000452378.1:n.*1283_*1326del
ENST00000358664.9:c.*347_*390del MANE Select	ENSP00000351490.4:n.*347_*390del
ENST00000651648.1:c.145-5760_145-5717del	ENSP00000498863.1:n.145-5760_145-5717del
ENST00000284165.10:c.*1674_*1717del	ENSP00000284165.6:n.*1674_*1717del
ENST00000341653.6:c.171+17579_171+17622del	ENSP00000342482.2:n.171+17579_171+17622del
ENST00000358402.8:c.*347_*390del	ENSP00000351175.4:n.*347_*390del
ENST00000358664.8:c.*347_*390del	ENSP00000351490.4:n.*347_*390del
ENST00000394606.6:c.*603_*646del	ENSP00000378104.2:n.*603_*646del
ENST00000555419.5:c.722_765del	ENSP00000452405.1:n.722_765del
ENST00000555932.5:c.*322_*365del	ENSP00000450763.1:n.*322_*365del
ENST00000618858.4:c.*619_*662del	ENSP00000480127.1:n.*619_*662del
NM_001271069.1:c.144+17579_144+17622del	NP_001257998.1:n.144+17579_144+17622del
NM_002382.4:c.*347_*390del	NP_002373.3:n.*347_*390del
NM_145112.2:c.*347_*390del	NP_660087.1:n.*347_*390del
NM_145113.2:c.*619_*662del	NP_660088.1:n.*619_*662del
NM_197957.3:c.171+17579_171+17622del	NP_932061.1:n.171+17579_171+17622del
NR_073137.1:n.954_997del
XR_429315.2:n.1117_1160del
NM_001320415.1:c.*347_*390del	NP_001307344.1:n.*347_*390del
XM_017021312.2:c.*347_*390del	XP_016876801.1:n.*347_*390del
XM_017021313.1:c.*347_*390del	XP_016876802.1:n.*347_*390del
XR_001750326.2:n.1175_1218del
XR_001750327.2:n.1094_1137del
XR_002957553.1:n.1608_1651del
XR_943450.3:n.1198_1241del
XR_943451.3:n.1214_1257del
XR_943452.3:n.1159_1202del
NM_001320415.2:c.*347_*390del	NP_001307344.1:n.*347_*390del
NM_002382.5:c.*347_*390del MANE Select	NP_002373.3:n.*347_*390del
NM_145112.3:c.*347_*390del	NP_660087.1:n.*347_*390del
NM_145113.3:c.*619_*662del	NP_660088.1:n.*619_*662del
NM_001271069.2:c.144+17579_144+17622del	NP_001257998.1:n.144+17579_144+17622del
NM_197957.4:c.171+17579_171+17622del	NP_932061.1:n.171+17579_171+17622del