Canonical Allele Identifier: CA913936025

Gene: MAX

Linked Data

• dbSNP Id: rs1566596921
• gnomAD v2: 14-65542767-CAA-C
• gnomAD v3: 14-65076049-CAA-C
• gnomAD v4: 14-65076049-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076051_65076052del , CM000676.2:g.65076051_65076052del	GRCh38
NC_000014.8:g.65542769_65542770del , CM000676.1:g.65542769_65542770del	GRCh37
NC_000014.7:g.64612522_64612523del	NCBI36
NG_029830.1:g.31459_31460del , LRG_530:g.31459_31460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*425_*426del	ENSP00000452206.2:n.*425_*426del
ENST00000556979.6:c.*1361_*1362del	ENSP00000452378.1:n.*1361_*1362del
ENST00000358664.9:c.*425_*426del MANE Select	ENSP00000351490.4:n.*425_*426del
ENST00000651648.1:c.145-5682_145-5681del	ENSP00000498863.1:n.145-5682_145-5681del
ENST00000284165.10:c.*1752_*1753del	ENSP00000284165.6:n.*1752_*1753del
ENST00000341653.6:c.171+17657_171+17658del	ENSP00000342482.2:n.171+17657_171+17658del
ENST00000358402.8:c.*425_*426del	ENSP00000351175.4:n.*425_*426del
ENST00000358664.8:c.*425_*426del	ENSP00000351490.4:n.*425_*426del
ENST00000394606.6:c.*681_*682del	ENSP00000378104.2:n.*681_*682del
ENST00000555932.5:c.*400_*401del	ENSP00000450763.1:n.*400_*401del
ENST00000618858.4:c.*697_*698del	ENSP00000480127.1:n.*697_*698del
NM_001271069.1:c.144+17657_144+17658del	NP_001257998.1:n.144+17657_144+17658del
NM_002382.4:c.*425_*426del	NP_002373.3:n.*425_*426del
NM_145112.2:c.*425_*426del	NP_660087.1:n.*425_*426del
NM_145113.2:c.*697_*698del	NP_660088.1:n.*697_*698del
NM_197957.3:c.171+17657_171+17658del	NP_932061.1:n.171+17657_171+17658del
NR_073137.1:n.1032_1033del
XR_429315.2:n.1195_1196del
NM_001320415.1:c.*425_*426del	NP_001307344.1:n.*425_*426del
XM_017021312.2:c.*425_*426del	XP_016876801.1:n.*425_*426del
XM_017021313.1:c.*425_*426del	XP_016876802.1:n.*425_*426del
XR_001750326.2:n.1253_1254del
XR_001750327.2:n.1172_1173del
XR_002957553.1:n.1686_1687del
XR_943450.3:n.1276_1277del
XR_943451.3:n.1292_1293del
XR_943452.3:n.1237_1238del
NM_001320415.2:c.*425_*426del	NP_001307344.1:n.*425_*426del
NM_002382.5:c.*425_*426del MANE Select	NP_002373.3:n.*425_*426del
NM_145112.3:c.*425_*426del	NP_660087.1:n.*425_*426del
NM_145113.3:c.*697_*698del	NP_660088.1:n.*697_*698del
NM_001271069.2:c.144+17657_144+17658del	NP_001257998.1:n.144+17657_144+17658del
NM_197957.4:c.171+17657_171+17658del	NP_932061.1:n.171+17657_171+17658del