Canonical Allele Identifier: CA614436360

Gene: MAX

Linked Data

• dbSNP Id: rs1203451642
• gnomAD v2: 14-65541943-TCCATG-T
• gnomAD v3: 14-65075225-TCCATG-T
• gnomAD v4: 14-65075225-TCCATG-T
• MyVariant Identifiers: chr14:g.65541944_65541948del (hg19) ; chr14:g.65075226_65075230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075226_65075230del , CM000676.2:g.65075226_65075230del	GRCh38
NC_000014.8:g.65541944_65541948del , CM000676.1:g.65541944_65541948del	GRCh37
NC_000014.7:g.64611697_64611701del	NCBI36
NG_029830.1:g.32280_32284del , LRG_530:g.32280_32284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2182_*2186del	ENSP00000452378.1:n.*2182_*2186del
ENST00000358664.9:c.*1246_*1250del MANE Select	ENSP00000351490.4:n.*1246_*1250del
ENST00000651648.1:c.145-4861_145-4857del	ENSP00000498863.1:n.145-4861_145-4857del
ENST00000284165.10:c.*2573_*2577del	ENSP00000284165.6:n.*2573_*2577del
ENST00000341653.6:c.171+18478_171+18482del	ENSP00000342482.2:n.171+18478_171+18482del
ENST00000358402.8:c.*1246_*1250del	ENSP00000351175.4:n.*1246_*1250del
ENST00000394606.6:c.*1502_*1506del	ENSP00000378104.2:n.*1502_*1506del
ENST00000555932.5:c.*1221_*1225del	ENSP00000450763.1:n.*1221_*1225del
ENST00000618858.4:c.*1518_*1522del	ENSP00000480127.1:n.*1518_*1522del
NM_001271069.1:c.144+18478_144+18482del	NP_001257998.1:n.144+18478_144+18482del
NM_002382.4:c.*1246_*1250del	NP_002373.3:n.*1246_*1250del
NM_145112.2:c.*1246_*1250del	NP_660087.1:n.*1246_*1250del
NM_145113.2:c.*1518_*1522del	NP_660088.1:n.*1518_*1522del
NM_197957.3:c.171+18478_171+18482del	NP_932061.1:n.171+18478_171+18482del
NR_073137.1:n.1853_1857del
XR_429315.2:n.2016_2020del
NM_001320415.1:c.*1246_*1250del	NP_001307344.1:n.*1246_*1250del
XM_017021312.2:c.*1246_*1250del	XP_016876801.1:n.*1246_*1250del
XM_017021313.1:c.*1246_*1250del	XP_016876802.1:n.*1246_*1250del
XR_001750326.2:n.2074_2078del
XR_001750327.2:n.1993_1997del
XR_002957553.1:n.2507_2511del
XR_943450.3:n.2097_2101del
XR_943451.3:n.2113_2117del
XR_943452.3:n.2058_2062del
NM_001320415.2:c.*1246_*1250del	NP_001307344.1:n.*1246_*1250del
NM_002382.5:c.*1246_*1250del MANE Select	NP_002373.3:n.*1246_*1250del
NM_145112.3:c.*1246_*1250del	NP_660087.1:n.*1246_*1250del
NM_145113.3:c.*1518_*1522del	NP_660088.1:n.*1518_*1522del
NM_001271069.2:c.144+18478_144+18482del	NP_001257998.1:n.144+18478_144+18482del
NM_197957.4:c.171+18478_171+18482del	NP_932061.1:n.171+18478_171+18482del