Canonical Allele Identifier: CA106766153
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs531196186
gnomAD v3: 4-139873931-CAATAGATAACT-C
gnomAD v4: 4-139873931-CAATAGATAACT-C
MyVariant Identifiers: chr4:g.140795086_140795096del (hg19) chr4:g.139873932_139873942del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139873936_139873946del , CM000666.2:g.139873936_139873946del GRCh38
NC_000004.11:g.140795090_140795100del , CM000666.1:g.140795090_140795100del GRCh37
NC_000004.10:g.141014540_141014550del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143275_111-143265del
ENST00000509479.6:c.2079+15415_2079+15425del MANE Select ENSP00000421180.1:n.2079+15415_2079+15425del
NM_018717.4:c.2067+15415_2067+15425del NP_061187.2:n.2067+15415_2067+15425del
NM_018717.5:c.2079+15415_2079+15425del MANE Select NP_061187.3:n.2079+15415_2079+15425del
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