Canonical Allele Identifier: CA1068725749
Gene: MAML3 HGNC NCBI

Linked Data

gnomAD v3: 4-139874183-A-ATTAT
gnomAD v4: 4-139874183-A-ATTAT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874183_139874184insTTAT , CM000666.2:g.139874183_139874184insTTAT GRCh38
NC_000004.11:g.140795337_140795338insTTAT , CM000666.1:g.140795337_140795338insTTAT GRCh37
NC_000004.10:g.141014787_141014788insTTAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143517_111-143516insATAA
ENST00000509479.6:c.2079+15173_2079+15174insATAA MANE Select ENSP00000421180.1:n.2079+15173_2079+15174insATAA
NM_018717.4:c.2067+15173_2067+15174insATAA NP_061187.2:n.2067+15173_2067+15174insATAA
NM_018717.5:c.2079+15173_2079+15174insATAA MANE Select NP_061187.3:n.2079+15173_2079+15174insATAA
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