Canonical Allele Identifier: CA891843751

Gene: MAX

Linked Data

• ClinVar Variation Id: 570685
• ClinVar RCV Id: RCV000691602
• dbSNP Id: rs1566597938
• MyVariant Identifiers: chr14:g.65543235dup (hg19) ; chr14:g.65076517dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076517dup , CM000676.2:g.65076517dup	GRCh38
NC_000014.8:g.65543235dup , CM000676.1:g.65543235dup	GRCh37
NC_000014.7:g.64612988dup	NCBI36
NG_029830.1:g.30993dup , LRG_530:g.30993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.223dup	ENSP00000452206.2:p.Glu75GlyfsTer?
ENST00000556979.6:c.*895dup	ENSP00000452378.1:n.*895dup
ENST00000358664.9:c.442dup MANE Select	ENSP00000351490.4:p.Glu148GlyfsTer?
ENST00000651648.1:c.145-6148dup	ENSP00000498863.1:n.145-6148dup
ENST00000284165.10:c.*1286dup	ENSP00000284165.6:n.*1286dup
ENST00000341653.6:c.171+17191dup	ENSP00000342482.2:n.171+17191dup
ENST00000358402.8:c.415dup	ENSP00000351175.4:p.Glu139GlyfsTer?
ENST00000358664.8:c.442dup	ENSP00000351490.4:p.Glu148GlyfsTer?
ENST00000394606.6:c.*215dup	ENSP00000378104.2:n.*215dup
ENST00000553928.5:c.*231dup	ENSP00000451907.1:n.*231dup
ENST00000555419.5:c.334dup	ENSP00000452405.1:p.Glu112GlyfsTer?
ENST00000555932.5:c.183dup	ENSP00000450763.1:p.Ser62GlufsTer14
ENST00000557277.5:c.253dup	ENSP00000450955.1:p.Glu85GlyfsTer?
ENST00000618858.4:c.*231dup	ENSP00000480127.1:n.*231dup
NM_001271069.1:c.144+17191dup	NP_001257998.1:n.144+17191dup
NM_002382.4:c.442dup	NP_002373.3:p.Glu148GlyfsTer?
NM_145112.2:c.415dup	NP_660087.1:p.Glu139GlyfsTer?
NM_145113.2:c.*231dup	NP_660088.1:n.*231dup
NM_197957.3:c.171+17191dup	NP_932061.1:n.171+17191dup
NR_073137.1:n.566dup
XR_429315.2:n.729dup
NM_001320415.1:c.253dup	NP_001307344.1:p.Glu85GlyfsTer?
XM_017021312.2:c.253dup	XP_016876801.1:p.Glu85GlyfsTer?
XM_017021313.1:c.253dup	XP_016876802.1:p.Glu85GlyfsTer?
XR_001750326.2:n.787dup
XR_001750327.2:n.706dup
XR_002957553.1:n.1220dup
XR_943450.3:n.810dup
XR_943451.3:n.826dup
XR_943452.3:n.771dup
NM_001320415.2:c.253dup	NP_001307344.1:p.Glu85GlyfsTer?
NM_002382.5:c.442dup MANE Select	NP_002373.3:p.Glu148GlyfsTer?
NM_145112.3:c.415dup	NP_660087.1:p.Glu139GlyfsTer?
NM_145113.3:c.*231dup	NP_660088.1:n.*231dup
NM_001271069.2:c.144+17191dup	NP_001257998.1:n.144+17191dup
NM_197957.4:c.171+17191dup	NP_932061.1:n.171+17191dup