Canonical Allele Identifier: CA2836126188
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109560970_109560971insTTGGGGGGGGGCGG , CM000674.2:g.109560970_109560971insTTGGGGGGGGGCGG GRCh38
NC_000012.11:g.109998775_109998776insTTGGGGGGGGGCGG , CM000674.1:g.109998775_109998776insTTGGGGGGGGGCGG GRCh37
NC_000012.10:g.108483158_108483159insTTGGGGGGGGGCGG NCBI36
NG_007096.1:g.17527_17528insCCGCCCCCCCCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.584+69_584+70insCCGCCCCCCCCCAA MANE Select ENSP00000445920.1:n.584+69_584+70insCCGCCCCCCCCCAA
ENST00000537496.5:c.*149+69_*149+70insCCGCCCCCCCCCAA ENSP00000444793.1:n.*149+69_*149+70insCCGCCCCCCCCCAA
ENST00000540016.5:c.428+69_428+70insCCGCCCCCCCCCAA ENSP00000474582.1:n.428+69_428+70insCCGCCCCCCCCCAA
ENST00000541763.6:c.809+69_809+70insCCGCCCCCCCCCAA ENSP00000474981.1:n.809+69_809+70insCCGCCCCCCCCCAA
ENST00000544051.5:c.*465+69_*465+70insCCGCCCCCCCCCAA ENSP00000438079.1:n.*465+69_*465+70insCCGCCCCCCCCCAA
ENST00000545712.6:c.584+69_584+70insCCGCCCCCCCCCAA ENSP00000445920.1:n.584+69_584+70insCCGCCCCCCCCCAA
NM_052845.3:c.584+69_584+70insCCGCCCCCCCCCAA NP_443077.1:n.584+69_584+70insCCGCCCCCCCCCAA
NR_038118.1:n.744+69_744+70insCCGCCCCCCCCCAA
XM_011538266.1:c.429+69_429+70insCCGCCCCCCCCCAA XP_011536568.1:n.429+69_429+70insCCGCCCCCCCCCAA
XM_011538267.1:c.429+69_429+70insCCGCCCCCCCCCAA XP_011536569.1:n.429+69_429+70insCCGCCCCCCCCCAA
XM_011538268.1:c.311+69_311+70insCCGCCCCCCCCCAA XP_011536570.1:n.311+69_311+70insCCGCCCCCCCCCAA
XM_011538269.1:c.308+69_308+70insCCGCCCCCCCCCAA XP_011536571.1:n.308+69_308+70insCCGCCCCCCCCCAA
XM_011538267.3:c.429+69_429+70insCCGCCCCCCCCCAA XP_011536569.1:n.429+69_429+70insCCGCCCCCCCCCAA
XM_011538268.2:c.311+69_311+70insCCGCCCCCCCCCAA XP_011536570.1:n.311+69_311+70insCCGCCCCCCCCCAA
XM_011538269.2:c.308+69_308+70insCCGCCCCCCCCCAA XP_011536571.1:n.308+69_308+70insCCGCCCCCCCCCAA
XM_024448961.1:c.584+69_584+70insCCGCCCCCCCCCAA XP_024304729.1:n.584+69_584+70insCCGCCCCCCCCCAA
NM_052845.4:c.584+69_584+70insCCGCCCCCCCCCAA MANE Select NP_443077.1:n.584+69_584+70insCCGCCCCCCCCCAA
NR_038118.2:n.695+69_695+70insCCGCCCCCCCCCAA