Canonical Allele Identifier: CA2695197684
Gene: MAF HGNC NCBI

Linked Data

ClinVar Variation Id: 2635299
ClinVar RCV Id: RCV003402816

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79599053_79599055del , CM000678.2:g.79599053_79599055del GRCh38
NC_000016.9:g.79632950_79632952del , CM000678.1:g.79632950_79632952del GRCh37
NC_000016.8:g.78190451_78190453del NCBI36
NG_016440.1:g.6677_6679del

Transcript Alleles

HGVS Amino-acid change
ENST00000326043.5:c.854_856del MANE Select ENSP00000327048.4:p.Glu285del
ENST00000326043.4:c.854_856del ENSP00000327048.4:p.Glu285del
ENST00000393350.1:c.854_856del ENSP00000377019.1:p.Glu285del
ENST00000569649.1:c.854_856del ENSP00000455097.1:p.Glu285del
NM_001031804.2:c.854_856del NP_001026974.1:p.Glu285del
NM_005360.4:c.854_856del NP_005351.2:p.Glu285del
XM_011523084.1:c.854_856del XP_011521386.1:p.Glu285del
XM_017023233.2:c.854_856del XP_016878722.1:p.Glu285del
XM_017023234.2:c.854_856del XP_016878723.1:p.Glu285del
XM_017023235.2:c.854_856del XP_016878724.1:p.Glu285del
XM_024450279.1:c.854_856del XP_024306047.1:p.Glu285del
XR_001751902.2:n.2904_2906del
XR_002957802.1:n.2904_2906del
XR_002957803.1:n.2904_2906del
XR_002957804.1:n.2904_2906del
NM_005360.5:c.854_856del MANE Select NP_005351.2:p.Glu285del
NM_001031804.3:c.854_856del NP_001026974.1:p.Glu285del