Canonical Allele Identifier: CA2142951417

Gene: MAX

Linked Data

• dbSNP Id: rs2063049108
• gnomAD v4: 14-65076089-GGGCAGGGCAGGCGTCCCCCGGGCATGTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076098_65076128del , CM000676.2:g.65076098_65076128del	GRCh38
NC_000014.8:g.65542816_65542846del , CM000676.1:g.65542816_65542846del	GRCh37
NC_000014.7:g.64612569_64612599del	NCBI36
NG_029830.1:g.31390_31420del , LRG_530:g.31390_31420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*356_*386del	ENSP00000452206.2:n.*356_*386del
ENST00000556979.6:c.*1292_*1322del	ENSP00000452378.1:n.*1292_*1322del
ENST00000358664.9:c.*356_*386del MANE Select	ENSP00000351490.4:n.*356_*386del
ENST00000651648.1:c.145-5751_145-5721del	ENSP00000498863.1:n.145-5751_145-5721del
ENST00000284165.10:c.*1683_*1713del	ENSP00000284165.6:n.*1683_*1713del
ENST00000341653.6:c.171+17588_171+17618del	ENSP00000342482.2:n.171+17588_171+17618del
ENST00000358402.8:c.*356_*386del	ENSP00000351175.4:n.*356_*386del
ENST00000358664.8:c.*356_*386del	ENSP00000351490.4:n.*356_*386del
ENST00000394606.6:c.*612_*642del	ENSP00000378104.2:n.*612_*642del
ENST00000555419.5:c.731_761del	ENSP00000452405.1:n.731_761del
ENST00000555932.5:c.*331_*361del	ENSP00000450763.1:n.*331_*361del
ENST00000618858.4:c.*628_*658del	ENSP00000480127.1:n.*628_*658del
NM_001271069.1:c.144+17588_144+17618del	NP_001257998.1:n.144+17588_144+17618del
NM_002382.4:c.*356_*386del	NP_002373.3:n.*356_*386del
NM_145112.2:c.*356_*386del	NP_660087.1:n.*356_*386del
NM_145113.2:c.*628_*658del	NP_660088.1:n.*628_*658del
NM_197957.3:c.171+17588_171+17618del	NP_932061.1:n.171+17588_171+17618del
NR_073137.1:n.963_993del
XR_429315.2:n.1126_1156del
NM_001320415.1:c.*356_*386del	NP_001307344.1:n.*356_*386del
XM_017021312.2:c.*356_*386del	XP_016876801.1:n.*356_*386del
XM_017021313.1:c.*356_*386del	XP_016876802.1:n.*356_*386del
XR_001750326.2:n.1184_1214del
XR_001750327.2:n.1103_1133del
XR_002957553.1:n.1617_1647del
XR_943450.3:n.1207_1237del
XR_943451.3:n.1223_1253del
XR_943452.3:n.1168_1198del
NM_001320415.2:c.*356_*386del	NP_001307344.1:n.*356_*386del
NM_002382.5:c.*356_*386del MANE Select	NP_002373.3:n.*356_*386del
NM_145112.3:c.*356_*386del	NP_660087.1:n.*356_*386del
NM_145113.3:c.*628_*658del	NP_660088.1:n.*628_*658del
NM_001271069.2:c.144+17588_144+17618del	NP_001257998.1:n.144+17588_144+17618del
NM_197957.4:c.171+17588_171+17618del	NP_932061.1:n.171+17588_171+17618del