Canonical Allele Identifier: CA707784287

Gene: MAX

Linked Data

• dbSNP Id: rs1349680238
• gnomAD v3: 14-65075536-GAAGA-G
• gnomAD v4: 14-65075536-GAAGA-G
• MyVariant Identifiers: chr14:g.65542255_65542258del (hg19) ; chr14:g.65075537_65075540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075545_65075548del , CM000676.2:g.65075545_65075548del	GRCh38
NC_000014.8:g.65542263_65542266del , CM000676.1:g.65542263_65542266del	GRCh37
NC_000014.7:g.64612016_64612019del	NCBI36
NG_029830.1:g.31970_31973del , LRG_530:g.31970_31973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*1872_*1875del	ENSP00000452378.1:n.*1872_*1875del
ENST00000358664.9:c.*936_*939del MANE Select	ENSP00000351490.4:n.*936_*939del
ENST00000651648.1:c.145-5171_145-5168del	ENSP00000498863.1:n.145-5171_145-5168del
ENST00000284165.10:c.*2263_*2266del	ENSP00000284165.6:n.*2263_*2266del
ENST00000341653.6:c.171+18168_171+18171del	ENSP00000342482.2:n.171+18168_171+18171del
ENST00000358402.8:c.*936_*939del	ENSP00000351175.4:n.*936_*939del
ENST00000394606.6:c.*1192_*1195del	ENSP00000378104.2:n.*1192_*1195del
ENST00000555932.5:c.*911_*914del	ENSP00000450763.1:n.*911_*914del
ENST00000618858.4:c.*1208_*1211del	ENSP00000480127.1:n.*1208_*1211del
NM_001271069.1:c.144+18168_144+18171del	NP_001257998.1:n.144+18168_144+18171del
NM_002382.4:c.*936_*939del	NP_002373.3:n.*936_*939del
NM_145112.2:c.*936_*939del	NP_660087.1:n.*936_*939del
NM_145113.2:c.*1208_*1211del	NP_660088.1:n.*1208_*1211del
NM_197957.3:c.171+18168_171+18171del	NP_932061.1:n.171+18168_171+18171del
NR_073137.1:n.1543_1546del
XR_429315.2:n.1706_1709del
NM_001320415.1:c.*936_*939del	NP_001307344.1:n.*936_*939del
XM_017021312.2:c.*936_*939del	XP_016876801.1:n.*936_*939del
XM_017021313.1:c.*936_*939del	XP_016876802.1:n.*936_*939del
XR_001750326.2:n.1764_1767del
XR_001750327.2:n.1683_1686del
XR_002957553.1:n.2197_2200del
XR_943450.3:n.1787_1790del
XR_943451.3:n.1803_1806del
XR_943452.3:n.1748_1751del
NM_001320415.2:c.*936_*939del	NP_001307344.1:n.*936_*939del
NM_002382.5:c.*936_*939del MANE Select	NP_002373.3:n.*936_*939del
NM_145112.3:c.*936_*939del	NP_660087.1:n.*936_*939del
NM_145113.3:c.*1208_*1211del	NP_660088.1:n.*1208_*1211del
NM_001271069.2:c.144+18168_144+18171del	NP_001257998.1:n.144+18168_144+18171del
NM_197957.4:c.171+18168_171+18171del	NP_932061.1:n.171+18168_171+18171del