Canonical Allele Identifier: CA1068725762
Gene: MAML3 HGNC NCBI

Linked Data

gnomAD v3: 4-139874190-A-ACCAGTGAAACTTGCTAACAGTTGGCTTTT
gnomAD v4: 4-139874190-A-ACCAGTGAAACTTGCTAACAGTTGGCTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874190_139874191insCCAGTGAAACTTGCTAACAGTTGGCTTTT , CM000666.2:g.139874190_139874191insCCAGTGAAACTTGCTAACAGTTGGCTTTT GRCh38
NC_000004.11:g.140795344_140795345insCCAGTGAAACTTGCTAACAGTTGGCTTTT , CM000666.1:g.140795344_140795345insCCAGTGAAACTTGCTAACAGTTGGCTTTT GRCh37
NC_000004.10:g.141014794_141014795insCCAGTGAAACTTGCTAACAGTTGGCTTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143524_111-143523insAAAAGCCAACTGTTAGCAAGTTTCACTGG
ENST00000509479.6:c.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG MANE Select ENSP00000421180.1:n.2079+15166_2079+15167insAAAAGCCAACTGTTAGC...
NM_018717.4:c.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG NP_061187.2:n.2067+15166_2067+15167insAAAAGCCAACTGTTAGCAAGTTT...
NM_018717.5:c.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTTCACTGG MANE Select NP_061187.3:n.2079+15166_2079+15167insAAAAGCCAACTGTTAGCAAGTTT...
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