Canonical Allele Identifier: CA2625289034

Gene: MAX

Linked Data

• gnomAD v4: 14-65075589-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075595_65075597del , CM000676.2:g.65075595_65075597del	GRCh38
NC_000014.8:g.65542313_65542315del , CM000676.1:g.65542313_65542315del	GRCh37
NC_000014.7:g.64612066_64612068del	NCBI36
NG_029830.1:g.31918_31920del , LRG_530:g.31918_31920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*884_*886del	ENSP00000452206.2:n.*884_*886del
ENST00000556979.6:c.*1820_*1822del	ENSP00000452378.1:n.*1820_*1822del
ENST00000358664.9:c.*884_*886del MANE Select	ENSP00000351490.4:n.*884_*886del
ENST00000651648.1:c.145-5223_145-5221del	ENSP00000498863.1:n.145-5223_145-5221del
ENST00000284165.10:c.*2211_*2213del	ENSP00000284165.6:n.*2211_*2213del
ENST00000341653.6:c.171+18116_171+18118del	ENSP00000342482.2:n.171+18116_171+18118del
ENST00000358402.8:c.*884_*886del	ENSP00000351175.4:n.*884_*886del
ENST00000358664.8:c.*884_*886del	ENSP00000351490.4:n.*884_*886del
ENST00000394606.6:c.*1140_*1142del	ENSP00000378104.2:n.*1140_*1142del
ENST00000555932.5:c.*859_*861del	ENSP00000450763.1:n.*859_*861del
ENST00000618858.4:c.*1156_*1158del	ENSP00000480127.1:n.*1156_*1158del
NM_001271069.1:c.144+18116_144+18118del	NP_001257998.1:n.144+18116_144+18118del
NM_002382.4:c.*884_*886del	NP_002373.3:n.*884_*886del
NM_145112.2:c.*884_*886del	NP_660087.1:n.*884_*886del
NM_145113.2:c.*1156_*1158del	NP_660088.1:n.*1156_*1158del
NM_197957.3:c.171+18116_171+18118del	NP_932061.1:n.171+18116_171+18118del
NR_073137.1:n.1491_1493del
XR_429315.2:n.1654_1656del
NM_001320415.1:c.*884_*886del	NP_001307344.1:n.*884_*886del
XM_017021312.2:c.*884_*886del	XP_016876801.1:n.*884_*886del
XM_017021313.1:c.*884_*886del	XP_016876802.1:n.*884_*886del
XR_001750326.2:n.1712_1714del
XR_001750327.2:n.1631_1633del
XR_002957553.1:n.2145_2147del
XR_943450.3:n.1735_1737del
XR_943451.3:n.1751_1753del
XR_943452.3:n.1696_1698del
NM_001320415.2:c.*884_*886del	NP_001307344.1:n.*884_*886del
NM_002382.5:c.*884_*886del MANE Select	NP_002373.3:n.*884_*886del
NM_145112.3:c.*884_*886del	NP_660087.1:n.*884_*886del
NM_145113.3:c.*1156_*1158del	NP_660088.1:n.*1156_*1158del
NM_001271069.2:c.144+18116_144+18118del	NP_001257998.1:n.144+18116_144+18118del
NM_197957.4:c.171+18116_171+18118del	NP_932061.1:n.171+18116_171+18118del