Canonical Allele Identifier: CA2062448058
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109560998_109561012delinsTCCCTCTCCCTTGGG , CM000674.2:g.109560998_109561012delinsTCCCTCTCCCTTGGG GRCh38
NC_000012.11:g.109998803_109998817delinsTCCCTCTCCCTTGGG , CM000674.1:g.109998803_109998817delinsTCCCTCTCCCTTGGG GRCh37
NC_000012.10:g.108483186_108483200delinsTCCCTCTCCCTTGGG NCBI36
NG_007096.1:g.17486_17500delinsCCCAAGGGAGAGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.584+28_584+42delinsCCCAAGGGAGAGGGA MANE Select ENSP00000445920.1:n.584+28_584+42delinsCCCAAGGGAGAGGGA
ENST00000537496.5:c.*149+28_*149+42delinsCCCAAGGGAGAGGGA ENSP00000444793.1:n.*149+28_*149+42delinsCCCAAGGGAGAGGGA
ENST00000540016.5:c.428+28_428+42delinsCCCAAGGGAGAGGGA ENSP00000474582.1:n.428+28_428+42delinsCCCAAGGGAGAGGGA
ENST00000541763.6:c.809+28_809+42delinsCCCAAGGGAGAGGGA ENSP00000474981.1:n.809+28_809+42delinsCCCAAGGGAGAGGGA
ENST00000544051.5:c.*465+28_*465+42delinsCCCAAGGGAGAGGGA ENSP00000438079.1:n.*465+28_*465+42delinsCCCAAGGGAGAGGGA
ENST00000545712.6:c.584+28_584+42delinsCCCAAGGGAGAGGGA ENSP00000445920.1:n.584+28_584+42delinsCCCAAGGGAGAGGGA
NM_052845.3:c.584+28_584+42delinsCCCAAGGGAGAGGGA NP_443077.1:n.584+28_584+42delinsCCCAAGGGAGAGGGA
NR_038118.1:n.744+28_744+42delinsCCCAAGGGAGAGGGA
XM_011538266.1:c.429+28_429+42delinsCCCAAGGGAGAGGGA XP_011536568.1:n.429+28_429+42delinsCCCAAGGGAGAGGGA
XM_011538267.1:c.429+28_429+42delinsCCCAAGGGAGAGGGA XP_011536569.1:n.429+28_429+42delinsCCCAAGGGAGAGGGA
XM_011538268.1:c.311+28_311+42delinsCCCAAGGGAGAGGGA XP_011536570.1:n.311+28_311+42delinsCCCAAGGGAGAGGGA
XM_011538269.1:c.308+28_308+42delinsCCCAAGGGAGAGGGA XP_011536571.1:n.308+28_308+42delinsCCCAAGGGAGAGGGA
XM_011538267.3:c.429+28_429+42delinsCCCAAGGGAGAGGGA XP_011536569.1:n.429+28_429+42delinsCCCAAGGGAGAGGGA
XM_011538268.2:c.311+28_311+42delinsCCCAAGGGAGAGGGA XP_011536570.1:n.311+28_311+42delinsCCCAAGGGAGAGGGA
XM_011538269.2:c.308+28_308+42delinsCCCAAGGGAGAGGGA XP_011536571.1:n.308+28_308+42delinsCCCAAGGGAGAGGGA
XM_024448961.1:c.584+28_584+42delinsCCCAAGGGAGAGGGA XP_024304729.1:n.584+28_584+42delinsCCCAAGGGAGAGGGA
NM_052845.4:c.584+28_584+42delinsCCCAAGGGAGAGGGA MANE Select NP_443077.1:n.584+28_584+42delinsCCCAAGGGAGAGGGA
NR_038118.2:n.695+28_695+42delinsCCCAAGGGAGAGGGA