Canonical Allele Identifier: CA707783980
Gene: MAX HGNC NCBI

Linked Data

dbSNP Id: rs1181393278
gnomAD v3: 14-65075087-ACCTTGG-A
gnomAD v4: 14-65075087-ACCTTGG-A
MyVariant Identifiers: chr14:g.65541806_65541811del (hg19) chr14:g.65075088_65075093del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65075092_65075097del , CM000676.2:g.65075092_65075097del GRCh38
NC_000014.8:g.65541810_65541815del , CM000676.1:g.65541810_65541815del GRCh37
NC_000014.7:g.64611563_64611568del NCBI36
NG_029830.1:g.32417_32422del , LRG_530:g.32417_32422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651648.1:c.145-4724_145-4719del ENSP00000498863.1:n.145-4724_145-4719del
ENST00000341653.6:c.171+18615_171+18620del ENSP00000342482.2:n.171+18615_171+18620del
NM_001271069.1:c.144+18615_144+18620del NP_001257998.1:n.144+18615_144+18620del
NM_197957.3:c.171+18615_171+18620del NP_932061.1:n.171+18615_171+18620del
NM_001271069.2:c.144+18615_144+18620del NP_001257998.1:n.144+18615_144+18620del
NM_197957.4:c.171+18615_171+18620del NP_932061.1:n.171+18615_171+18620del
Search 100 bp 5'
Search 100 bp 3'