Canonical Allele Identifier: CA2625289006

Gene: MAX

Linked Data

• gnomAD v4: 14-65075527-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075532_65075533del , CM000676.2:g.65075532_65075533del	GRCh38
NC_000014.8:g.65542250_65542251del , CM000676.1:g.65542250_65542251del	GRCh37
NC_000014.7:g.64612003_64612004del	NCBI36
NG_029830.1:g.31981_31982del , LRG_530:g.31981_31982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*1883_*1884del	ENSP00000452378.1:n.*1883_*1884del
ENST00000358664.9:c.*947_*948del MANE Select	ENSP00000351490.4:n.*947_*948del
ENST00000651648.1:c.145-5160_145-5159del	ENSP00000498863.1:n.145-5160_145-5159del
ENST00000284165.10:c.*2274_*2275del	ENSP00000284165.6:n.*2274_*2275del
ENST00000341653.6:c.171+18179_171+18180del	ENSP00000342482.2:n.171+18179_171+18180del
ENST00000358402.8:c.*947_*948del	ENSP00000351175.4:n.*947_*948del
ENST00000394606.6:c.*1203_*1204del	ENSP00000378104.2:n.*1203_*1204del
ENST00000555932.5:c.*922_*923del	ENSP00000450763.1:n.*922_*923del
ENST00000618858.4:c.*1219_*1220del	ENSP00000480127.1:n.*1219_*1220del
NM_001271069.1:c.144+18179_144+18180del	NP_001257998.1:n.144+18179_144+18180del
NM_002382.4:c.*947_*948del	NP_002373.3:n.*947_*948del
NM_145112.2:c.*947_*948del	NP_660087.1:n.*947_*948del
NM_145113.2:c.*1219_*1220del	NP_660088.1:n.*1219_*1220del
NM_197957.3:c.171+18179_171+18180del	NP_932061.1:n.171+18179_171+18180del
NR_073137.1:n.1554_1555del
XR_429315.2:n.1717_1718del
NM_001320415.1:c.*947_*948del	NP_001307344.1:n.*947_*948del
XM_017021312.2:c.*947_*948del	XP_016876801.1:n.*947_*948del
XM_017021313.1:c.*947_*948del	XP_016876802.1:n.*947_*948del
XR_001750326.2:n.1775_1776del
XR_001750327.2:n.1694_1695del
XR_002957553.1:n.2208_2209del
XR_943450.3:n.1798_1799del
XR_943451.3:n.1814_1815del
XR_943452.3:n.1759_1760del
NM_001320415.2:c.*947_*948del	NP_001307344.1:n.*947_*948del
NM_002382.5:c.*947_*948del MANE Select	NP_002373.3:n.*947_*948del
NM_145112.3:c.*947_*948del	NP_660087.1:n.*947_*948del
NM_145113.3:c.*1219_*1220del	NP_660088.1:n.*1219_*1220del
NM_001271069.2:c.144+18179_144+18180del	NP_001257998.1:n.144+18179_144+18180del
NM_197957.4:c.171+18179_171+18180del	NP_932061.1:n.171+18179_171+18180del