Canonical Allele Identifier: CA614436358

Gene: MAX

Linked Data

• dbSNP Id: rs1264652929
• gnomAD v2: 14-65541931-ATACT-A
• MyVariant Identifiers: chr14:g.65541932_65541935del (hg19) ; chr14:g.65075214_65075217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075215_65075218del , CM000676.2:g.65075215_65075218del	GRCh38
NC_000014.8:g.65541933_65541936del , CM000676.1:g.65541933_65541936del	GRCh37
NC_000014.7:g.64611686_64611689del	NCBI36
NG_029830.1:g.32293_32296del , LRG_530:g.32293_32296del

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*2195_*2198del	ENSP00000452378.1:n.*2195_*2198del
ENST00000358664.9:c.*1259_*1262del MANE Select	ENSP00000351490.4:n.*1259_*1262del
ENST00000651648.1:c.145-4848_145-4845del	ENSP00000498863.1:n.145-4848_145-4845del
ENST00000284165.10:c.*2586_*2589del	ENSP00000284165.6:n.*2586_*2589del
ENST00000341653.6:c.171+18491_171+18494del	ENSP00000342482.2:n.171+18491_171+18494de...
ENST00000358402.8:c.*1259_*1262del	ENSP00000351175.4:n.*1259_*1262del
ENST00000394606.6:c.*1515_*1518del	ENSP00000378104.2:n.*1515_*1518del
ENST00000555932.5:c.*1234_*1237del	ENSP00000450763.1:n.*1234_*1237del
ENST00000618858.4:c.*1531_*1534del	ENSP00000480127.1:n.*1531_*1534del
NM_001271069.1:c.144+18491_144+18494del	NP_001257998.1:n.144+18491_144+18494del
NM_002382.4:c.*1259_*1262del	NP_002373.3:n.*1259_*1262del
NM_145112.2:c.*1259_*1262del	NP_660087.1:n.*1259_*1262del
NM_145113.2:c.*1531_*1534del	NP_660088.1:n.*1531_*1534del
NM_197957.3:c.171+18491_171+18494del	NP_932061.1:n.171+18491_171+18494del
NR_073137.1:n.1866_1869del
XR_429315.2:n.2029_2032del
NM_001320415.1:c.*1259_*1262del	NP_001307344.1:n.*1259_*1262del
XM_017021312.2:c.*1259_*1262del	XP_016876801.1:n.*1259_*1262del
XM_017021313.1:c.*1259_*1262del	XP_016876802.1:n.*1259_*1262del
XR_001750326.2:n.2087_2090del
XR_001750327.2:n.2006_2009del
XR_002957553.1:n.2520_2523del
XR_943450.3:n.2110_2113del
XR_943451.3:n.2126_2129del
XR_943452.3:n.2071_2074del
NM_001320415.2:c.*1259_*1262del	NP_001307344.1:n.*1259_*1262del
NM_002382.5:c.*1259_*1262del MANE Select	NP_002373.3:n.*1259_*1262del
NM_145112.3:c.*1259_*1262del	NP_660087.1:n.*1259_*1262del
NM_145113.3:c.*1531_*1534del	NP_660088.1:n.*1531_*1534del
NM_001271069.2:c.144+18491_144+18494del	NP_001257998.1:n.144+18491_144+18494del
NM_197957.4:c.171+18491_171+18494del	NP_932061.1:n.171+18491_171+18494del