Canonical Allele Identifier: CA2625289092

Gene: MAX

Linked Data

• gnomAD v4: 14-65075700-ACCCTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075701_65075707del , CM000676.2:g.65075701_65075707del	GRCh38
NC_000014.8:g.65542419_65542425del , CM000676.1:g.65542419_65542425del	GRCh37
NC_000014.7:g.64612172_64612178del	NCBI36
NG_029830.1:g.31803_31809del , LRG_530:g.31803_31809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*769_*775del	ENSP00000452206.2:n.*769_*775del
ENST00000556979.6:c.*1705_*1711del	ENSP00000452378.1:n.*1705_*1711del
ENST00000358664.9:c.*769_*775del MANE Select	ENSP00000351490.4:n.*769_*775del
ENST00000651648.1:c.145-5338_145-5332del	ENSP00000498863.1:n.145-5338_145-5332del
ENST00000284165.10:c.*2096_*2102del	ENSP00000284165.6:n.*2096_*2102del
ENST00000341653.6:c.171+18001_171+18007del	ENSP00000342482.2:n.171+18001_171+18007del
ENST00000358402.8:c.*769_*775del	ENSP00000351175.4:n.*769_*775del
ENST00000358664.8:c.*769_*775del	ENSP00000351490.4:n.*769_*775del
ENST00000394606.6:c.*1025_*1031del	ENSP00000378104.2:n.*1025_*1031del
ENST00000555932.5:c.*744_*750del	ENSP00000450763.1:n.*744_*750del
ENST00000618858.4:c.*1041_*1047del	ENSP00000480127.1:n.*1041_*1047del
NM_001271069.1:c.144+18001_144+18007del	NP_001257998.1:n.144+18001_144+18007del
NM_002382.4:c.*769_*775del	NP_002373.3:n.*769_*775del
NM_145112.2:c.*769_*775del	NP_660087.1:n.*769_*775del
NM_145113.2:c.*1041_*1047del	NP_660088.1:n.*1041_*1047del
NM_197957.3:c.171+18001_171+18007del	NP_932061.1:n.171+18001_171+18007del
NR_073137.1:n.1376_1382del
XR_429315.2:n.1539_1545del
NM_001320415.1:c.*769_*775del	NP_001307344.1:n.*769_*775del
XM_017021312.2:c.*769_*775del	XP_016876801.1:n.*769_*775del
XM_017021313.1:c.*769_*775del	XP_016876802.1:n.*769_*775del
XR_001750326.2:n.1597_1603del
XR_001750327.2:n.1516_1522del
XR_002957553.1:n.2030_2036del
XR_943450.3:n.1620_1626del
XR_943451.3:n.1636_1642del
XR_943452.3:n.1581_1587del
NM_001320415.2:c.*769_*775del	NP_001307344.1:n.*769_*775del
NM_002382.5:c.*769_*775del MANE Select	NP_002373.3:n.*769_*775del
NM_145112.3:c.*769_*775del	NP_660087.1:n.*769_*775del
NM_145113.3:c.*1041_*1047del	NP_660088.1:n.*1041_*1047del
NM_001271069.2:c.144+18001_144+18007del	NP_001257998.1:n.144+18001_144+18007del
NM_197957.4:c.171+18001_171+18007del	NP_932061.1:n.171+18001_171+18007del