Canonical Allele Identifier: CA2537156265
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561004_109561009del , CM000674.2:g.109561004_109561009del GRCh38
NC_000012.11:g.109998809_109998814del , CM000674.1:g.109998809_109998814del GRCh37
NC_000012.10:g.108483192_108483197del NCBI36
NG_007096.1:g.17489_17494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.584+31_584+36del MANE Select ENSP00000445920.1:n.584+31_584+36del
ENST00000537496.5:c.*149+31_*149+36del ENSP00000444793.1:n.*149+31_*149+36del
ENST00000540016.5:c.428+31_428+36del ENSP00000474582.1:n.428+31_428+36del
ENST00000541763.6:c.809+31_809+36del ENSP00000474981.1:n.809+31_809+36del
ENST00000544051.5:c.*465+31_*465+36del ENSP00000438079.1:n.*465+31_*465+36del
ENST00000545712.6:c.584+31_584+36del ENSP00000445920.1:n.584+31_584+36del
NM_052845.3:c.584+31_584+36del NP_443077.1:n.584+31_584+36del
NR_038118.1:n.744+31_744+36del
XM_011538266.1:c.429+31_429+36del XP_011536568.1:n.429+31_429+36del
XM_011538267.1:c.429+31_429+36del XP_011536569.1:n.429+31_429+36del
XM_011538268.1:c.311+31_311+36del XP_011536570.1:n.311+31_311+36del
XM_011538269.1:c.308+31_308+36del XP_011536571.1:n.308+31_308+36del
XM_011538267.3:c.429+31_429+36del XP_011536569.1:n.429+31_429+36del
XM_011538268.2:c.311+31_311+36del XP_011536570.1:n.311+31_311+36del
XM_011538269.2:c.308+31_308+36del XP_011536571.1:n.308+31_308+36del
XM_024448961.1:c.584+31_584+36del XP_024304729.1:n.584+31_584+36del
NM_052845.4:c.584+31_584+36del MANE Select NP_443077.1:n.584+31_584+36del
NR_038118.2:n.695+31_695+36del