Canonical Allele Identifier: CA614736758

Gene: MAX

Linked Data

• dbSNP Id: rs1566597794
• gnomAD v2: 14-65543182-G-GC
• gnomAD v4: 14-65076464-G-GC
• MyVariant Identifiers: chr14:g.65543182_65543183insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076468dup , CM000676.2:g.65076468dup	GRCh38
NC_000014.8:g.65543186dup , CM000676.1:g.65543186dup	GRCh37
NC_000014.7:g.64612939dup	NCBI36
NG_029830.1:g.31045dup , LRG_530:g.31045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*11dup	ENSP00000452206.2:n.*11dup
ENST00000556979.6:c.*947dup	ENSP00000452378.1:n.*947dup
ENST00000358664.9:c.*11dup MANE Select	ENSP00000351490.4:n.*11dup
ENST00000651648.1:c.145-6096dup	ENSP00000498863.1:n.145-6096dup
ENST00000284165.10:c.*1338dup	ENSP00000284165.6:n.*1338dup
ENST00000341653.6:c.171+17243dup	ENSP00000342482.2:n.171+17243dup
ENST00000358402.8:c.*11dup	ENSP00000351175.4:n.*11dup
ENST00000358664.8:c.*11dup	ENSP00000351490.4:n.*11dup
ENST00000394606.6:c.*267dup	ENSP00000378104.2:n.*267dup
ENST00000553928.5:c.*283dup	ENSP00000451907.1:n.*283dup
ENST00000555419.5:c.386dup	ENSP00000452405.1:n.386dup
ENST00000555932.5:c.235dup	ENSP00000450763.1:p.Ala79GlyfsTer21
ENST00000557277.5:c.*11dup	ENSP00000450955.1:n.*11dup
ENST00000618858.4:c.*283dup	ENSP00000480127.1:n.*283dup
NM_001271069.1:c.144+17243dup	NP_001257998.1:n.144+17243dup
NM_002382.4:c.*11dup	NP_002373.3:n.*11dup
NM_145112.2:c.*11dup	NP_660087.1:n.*11dup
NM_145113.2:c.*283dup	NP_660088.1:n.*283dup
NM_197957.3:c.171+17243dup	NP_932061.1:n.171+17243dup
NR_073137.1:n.618dup
XR_429315.2:n.781dup
NM_001320415.1:c.*11dup	NP_001307344.1:n.*11dup
XM_017021312.2:c.*11dup	XP_016876801.1:n.*11dup
XM_017021313.1:c.*11dup	XP_016876802.1:n.*11dup
XR_001750326.2:n.839dup
XR_001750327.2:n.758dup
XR_002957553.1:n.1272dup
XR_943450.3:n.862dup
XR_943451.3:n.878dup
XR_943452.3:n.823dup
NM_001320415.2:c.*11dup	NP_001307344.1:n.*11dup
NM_002382.5:c.*11dup MANE Select	NP_002373.3:n.*11dup
NM_145112.3:c.*11dup	NP_660087.1:n.*11dup
NM_145113.3:c.*283dup	NP_660088.1:n.*283dup
NM_001271069.2:c.144+17243dup	NP_001257998.1:n.144+17243dup
NM_197957.4:c.171+17243dup	NP_932061.1:n.171+17243dup