Canonical Allele Identifier: CA2062447930
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109560935_109560961delinsCCCTCTCCCTCTCCCCATCTCCGTCCT , CM000674.2:g.109560935_109560961delinsCCCTCTCCCTCTCCCCATCTCCGTCCT GRCh38
NC_000012.11:g.109998740_109998766delinsCCCTCTCCCTCTCCCCATCTCCGTCCT , CM000674.1:g.109998740_109998766delinsCCCTCTCCCTCTCCCCATCTCCGTCCT GRCh37
NC_000012.10:g.108483123_108483149delinsCCCTCTCCCTCTCCCCATCTCCGTCCT NCBI36
NG_007096.1:g.17537_17563delinsAGGACGGAGATGGGGAGAGGGAGAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG MANE Select ENSP00000445920.1:n.584+79_584+105delinsAGGACGGAGATGGGGAGAGGG...
ENST00000537496.5:c.*149+79_*149+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG ENSP00000444793.1:n.*149+79_*149+105delinsAGGACGGAGATGGGGAGAG...
ENST00000540016.5:c.428+79_428+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG ENSP00000474582.1:n.428+79_428+105delinsAGGACGGAGATGGGGAGAGGG...
ENST00000541763.6:c.809+79_809+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG ENSP00000474981.1:n.809+79_809+105delinsAGGACGGAGATGGGGAGAGGG...
ENST00000544051.5:c.*465+79_*465+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG ENSP00000438079.1:n.*465+79_*465+105delinsAGGACGGAGATGGGGAGAG...
ENST00000545712.6:c.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG ENSP00000445920.1:n.584+79_584+105delinsAGGACGGAGATGGGGAGAGGG...
NM_052845.3:c.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG NP_443077.1:n.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG...
NR_038118.1:n.744+79_744+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG
XM_011538266.1:c.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536568.1:n.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538267.1:c.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536569.1:n.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538268.1:c.311+79_311+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536570.1:n.311+79_311+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538269.1:c.308+79_308+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536571.1:n.308+79_308+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538267.3:c.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536569.1:n.429+79_429+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538268.2:c.311+79_311+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536570.1:n.311+79_311+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_011538269.2:c.308+79_308+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_011536571.1:n.308+79_308+105delinsAGGACGGAGATGGGGAGAGGGAGA...
XM_024448961.1:c.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG XP_024304729.1:n.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGA...
NM_052845.4:c.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG MANE Select NP_443077.1:n.584+79_584+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG...
NR_038118.2:n.695+79_695+105delinsAGGACGGAGATGGGGAGAGGGAGAGGG