Canonical Allele Identifier: CA2625288864

Gene: MAX

Linked Data

• gnomAD v4: 14-65075302-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075306_65075307del , CM000676.2:g.65075306_65075307del	GRCh38
NC_000014.8:g.65542024_65542025del , CM000676.1:g.65542024_65542025del	GRCh37
NC_000014.7:g.64611777_64611778del	NCBI36
NG_029830.1:g.32206_32207del , LRG_530:g.32206_32207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2108_*2109del	ENSP00000452378.1:n.*2108_*2109del
ENST00000358664.9:c.*1172_*1173del MANE Select	ENSP00000351490.4:n.*1172_*1173del
ENST00000651648.1:c.145-4935_145-4934del	ENSP00000498863.1:n.145-4935_145-4934del
ENST00000284165.10:c.*2499_*2500del	ENSP00000284165.6:n.*2499_*2500del
ENST00000341653.6:c.171+18404_171+18405del	ENSP00000342482.2:n.171+18404_171+18405del
ENST00000358402.8:c.*1172_*1173del	ENSP00000351175.4:n.*1172_*1173del
ENST00000394606.6:c.*1428_*1429del	ENSP00000378104.2:n.*1428_*1429del
ENST00000555932.5:c.*1147_*1148del	ENSP00000450763.1:n.*1147_*1148del
ENST00000618858.4:c.*1444_*1445del	ENSP00000480127.1:n.*1444_*1445del
NM_001271069.1:c.144+18404_144+18405del	NP_001257998.1:n.144+18404_144+18405del
NM_002382.4:c.*1172_*1173del	NP_002373.3:n.*1172_*1173del
NM_145112.2:c.*1172_*1173del	NP_660087.1:n.*1172_*1173del
NM_145113.2:c.*1444_*1445del	NP_660088.1:n.*1444_*1445del
NM_197957.3:c.171+18404_171+18405del	NP_932061.1:n.171+18404_171+18405del
NR_073137.1:n.1779_1780del
XR_429315.2:n.1942_1943del
NM_001320415.1:c.*1172_*1173del	NP_001307344.1:n.*1172_*1173del
XM_017021312.2:c.*1172_*1173del	XP_016876801.1:n.*1172_*1173del
XM_017021313.1:c.*1172_*1173del	XP_016876802.1:n.*1172_*1173del
XR_001750326.2:n.2000_2001del
XR_001750327.2:n.1919_1920del
XR_002957553.1:n.2433_2434del
XR_943450.3:n.2023_2024del
XR_943451.3:n.2039_2040del
XR_943452.3:n.1984_1985del
NM_001320415.2:c.*1172_*1173del	NP_001307344.1:n.*1172_*1173del
NM_002382.5:c.*1172_*1173del MANE Select	NP_002373.3:n.*1172_*1173del
NM_145112.3:c.*1172_*1173del	NP_660087.1:n.*1172_*1173del
NM_145113.3:c.*1444_*1445del	NP_660088.1:n.*1444_*1445del
NM_001271069.2:c.144+18404_144+18405del	NP_001257998.1:n.144+18404_144+18405del
NM_197957.4:c.171+18404_171+18405del	NP_932061.1:n.171+18404_171+18405del