Canonical Allele Identifier: CA964079307

Gene: MAX

Linked Data

• dbSNP Id: rs2063026301
• gnomAD v3: 14-65075160-AGTAAAGGG-A
• gnomAD v4: 14-65075160-AGTAAAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075162_65075169del , CM000676.2:g.65075162_65075169del	GRCh38
NC_000014.8:g.65541880_65541887del , CM000676.1:g.65541880_65541887del	GRCh37
NC_000014.7:g.64611633_64611640del	NCBI36
NG_029830.1:g.32342_32349del , LRG_530:g.32342_32349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2244_*2251del	ENSP00000452378.1:n.*2244_*2251del
ENST00000358664.9:c.*1308_*1315del MANE Select	ENSP00000351490.4:n.*1308_*1315del
ENST00000651648.1:c.145-4799_145-4792del	ENSP00000498863.1:n.145-4799_145-4792del
ENST00000341653.6:c.171+18540_171+18547del	ENSP00000342482.2:n.171+18540_171+18547del
ENST00000358402.8:c.*1308_*1315del	ENSP00000351175.4:n.*1308_*1315del
ENST00000394606.6:c.*1564_*1571del	ENSP00000378104.2:n.*1564_*1571del
ENST00000555932.5:c.*1283_*1290del	ENSP00000450763.1:n.*1283_*1290del
ENST00000618858.4:c.*1580_*1587del	ENSP00000480127.1:n.*1580_*1587del
NM_001271069.1:c.144+18540_144+18547del	NP_001257998.1:n.144+18540_144+18547del
NM_002382.4:c.*1308_*1315del	NP_002373.3:n.*1308_*1315del
NM_145112.2:c.*1308_*1315del	NP_660087.1:n.*1308_*1315del
NM_145113.2:c.*1580_*1587del	NP_660088.1:n.*1580_*1587del
NM_197957.3:c.171+18540_171+18547del	NP_932061.1:n.171+18540_171+18547del
NR_073137.1:n.1915_1922del
XR_429315.2:n.2078_2085del
NM_001320415.1:c.*1308_*1315del	NP_001307344.1:n.*1308_*1315del
XM_017021312.2:c.*1308_*1315del	XP_016876801.1:n.*1308_*1315del
XM_017021313.1:c.*1308_*1315del	XP_016876802.1:n.*1308_*1315del
XR_001750326.2:n.2136_2143del
XR_001750327.2:n.2055_2062del
XR_002957553.1:n.2569_2576del
XR_943450.3:n.2159_2166del
XR_943451.3:n.2175_2182del
XR_943452.3:n.2120_2127del
NM_001320415.2:c.*1308_*1315del	NP_001307344.1:n.*1308_*1315del
NM_002382.5:c.*1308_*1315del MANE Select	NP_002373.3:n.*1308_*1315del
NM_145112.3:c.*1308_*1315del	NP_660087.1:n.*1308_*1315del
NM_145113.3:c.*1580_*1587del	NP_660088.1:n.*1580_*1587del
NM_001271069.2:c.144+18540_144+18547del	NP_001257998.1:n.144+18540_144+18547del
NM_197957.4:c.171+18540_171+18547del	NP_932061.1:n.171+18540_171+18547del