Canonical Allele Identifier: CA614436369

Gene: MAX

Linked Data

• dbSNP Id: rs1335835481
• gnomAD v2: 14-65542055-AC-A
• gnomAD v3: 14-65075337-AC-A
• gnomAD v4: 14-65075337-AC-A
• MyVariant Identifiers: chr14:g.65542056del (hg19) ; chr14:g.65075338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075340del , CM000676.2:g.65075340del	GRCh38
NC_000014.8:g.65542058del , CM000676.1:g.65542058del	GRCh37
NC_000014.7:g.64611811del	NCBI36
NG_029830.1:g.32172del , LRG_530:g.32172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2074del	ENSP00000452378.1:n.*2074del
ENST00000358664.9:c.*1138del MANE Select	ENSP00000351490.4:n.*1138del
ENST00000651648.1:c.145-4969del	ENSP00000498863.1:n.145-4969del
ENST00000284165.10:c.*2465del	ENSP00000284165.6:n.*2465del
ENST00000341653.6:c.171+18370del	ENSP00000342482.2:n.171+18370del
ENST00000358402.8:c.*1138del	ENSP00000351175.4:n.*1138del
ENST00000394606.6:c.*1394del	ENSP00000378104.2:n.*1394del
ENST00000555932.5:c.*1113del	ENSP00000450763.1:n.*1113del
ENST00000618858.4:c.*1410del	ENSP00000480127.1:n.*1410del
NM_001271069.1:c.144+18370del	NP_001257998.1:n.144+18370del
NM_002382.4:c.*1138del	NP_002373.3:n.*1138del
NM_145112.2:c.*1138del	NP_660087.1:n.*1138del
NM_145113.2:c.*1410del	NP_660088.1:n.*1410del
NM_197957.3:c.171+18370del	NP_932061.1:n.171+18370del
NR_073137.1:n.1745del
XR_429315.2:n.1908del
NM_001320415.1:c.*1138del	NP_001307344.1:n.*1138del
XM_017021312.2:c.*1138del	XP_016876801.1:n.*1138del
XM_017021313.1:c.*1138del	XP_016876802.1:n.*1138del
XR_001750326.2:n.1966del
XR_001750327.2:n.1885del
XR_002957553.1:n.2399del
XR_943450.3:n.1989del
XR_943451.3:n.2005del
XR_943452.3:n.1950del
NM_001320415.2:c.*1138del	NP_001307344.1:n.*1138del
NM_002382.5:c.*1138del MANE Select	NP_002373.3:n.*1138del
NM_145112.3:c.*1138del	NP_660087.1:n.*1138del
NM_145113.3:c.*1410del	NP_660088.1:n.*1410del
NM_001271069.2:c.144+18370del	NP_001257998.1:n.144+18370del
NM_197957.4:c.171+18370del	NP_932061.1:n.171+18370del