Canonical Allele Identifier: CA614436355

Gene: MAX

Linked Data

• dbSNP Id: rs1376869199
• gnomAD v2: 14-65541898-CT-C
• gnomAD v3: 14-65075180-CT-C
• gnomAD v4: 14-65075180-CT-C
• MyVariant Identifiers: chr14:g.65541899del (hg19) ; chr14:g.65075181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075182del , CM000676.2:g.65075182del	GRCh38
NC_000014.8:g.65541900del , CM000676.1:g.65541900del	GRCh37
NC_000014.7:g.64611653del	NCBI36
NG_029830.1:g.32329del , LRG_530:g.32329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2231del	ENSP00000452378.1:n.*2231del
ENST00000358664.9:c.*1295del MANE Select	ENSP00000351490.4:n.*1295del
ENST00000651648.1:c.145-4812del	ENSP00000498863.1:n.145-4812del
ENST00000341653.6:c.171+18527del	ENSP00000342482.2:n.171+18527del
ENST00000358402.8:c.*1295del	ENSP00000351175.4:n.*1295del
ENST00000394606.6:c.*1551del	ENSP00000378104.2:n.*1551del
ENST00000555932.5:c.*1270del	ENSP00000450763.1:n.*1270del
ENST00000618858.4:c.*1567del	ENSP00000480127.1:n.*1567del
NM_001271069.1:c.144+18527del	NP_001257998.1:n.144+18527del
NM_002382.4:c.*1295del	NP_002373.3:n.*1295del
NM_145112.2:c.*1295del	NP_660087.1:n.*1295del
NM_145113.2:c.*1567del	NP_660088.1:n.*1567del
NM_197957.3:c.171+18527del	NP_932061.1:n.171+18527del
NR_073137.1:n.1902del
XR_429315.2:n.2065del
NM_001320415.1:c.*1295del	NP_001307344.1:n.*1295del
XM_017021312.2:c.*1295del	XP_016876801.1:n.*1295del
XM_017021313.1:c.*1295del	XP_016876802.1:n.*1295del
XR_001750326.2:n.2123del
XR_001750327.2:n.2042del
XR_002957553.1:n.2556del
XR_943450.3:n.2146del
XR_943451.3:n.2162del
XR_943452.3:n.2107del
NM_001320415.2:c.*1295del	NP_001307344.1:n.*1295del
NM_002382.5:c.*1295del MANE Select	NP_002373.3:n.*1295del
NM_145112.3:c.*1295del	NP_660087.1:n.*1295del
NM_145113.3:c.*1567del	NP_660088.1:n.*1567del
NM_001271069.2:c.144+18527del	NP_001257998.1:n.144+18527del
NM_197957.4:c.171+18527del	NP_932061.1:n.171+18527del