Canonical Allele Identifier: CA788038017
Gene: MAML3 HGNC NCBI

Linked Data

dbSNP Id: rs1279197000
MyVariant Identifiers: chr4:g.140795251_140795253del (hg19) chr4:g.139874097_139874099del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139874099_139874101del , CM000666.2:g.139874099_139874101del GRCh38
NC_000004.11:g.140795253_140795255del , CM000666.1:g.140795253_140795255del GRCh37
NC_000004.10:g.141014703_141014705del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502696.1:c.111-143432_111-143430del
ENST00000509479.6:c.2079+15258_2079+15260del MANE Select ENSP00000421180.1:n.2079+15258_2079+15260del
NM_018717.4:c.2067+15258_2067+15260del NP_061187.2:n.2067+15258_2067+15260del
NM_018717.5:c.2079+15258_2079+15260del MANE Select NP_061187.3:n.2079+15258_2079+15260del
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