Canonical Allele Identifier: CA2575285599
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568835_109568837del , CM000674.2:g.109568835_109568837del GRCh38
NC_000012.11:g.110006640_110006642del , CM000674.1:g.110006640_110006642del GRCh37
NC_000012.10:g.108491023_108491025del NCBI36
NG_007096.1:g.9663_9665del
NG_007702.1:g.141_143del , LRG_156:g.141_143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.225_227del MANE Select ENSP00000445920.1:p.Arg76del
ENST00000420167.6:c.*54_*56del ENSP00000416136.2:n.*54_*56del
ENST00000503497.7:c.225_227del ENSP00000474881.1:p.Arg76del
ENST00000536760.1:n.228_230del
ENST00000537236.2:c.225_227del ENSP00000483818.1:p.Arg76del
ENST00000537496.5:c.225_227del ENSP00000444793.1:p.Arg76del
ENST00000540016.5:c.135-3659_135-3657del ENSP00000474582.1:n.135-3659_135-3657del
ENST00000541763.6:c.225_227del ENSP00000474981.1:p.Arg76del
ENST00000542390.5:n.252_254del
ENST00000544051.5:c.*19_*21del ENSP00000438079.1:n.*19_*21del
ENST00000545712.6:c.225_227del ENSP00000445920.1:p.Arg76del
NM_052845.3:c.225_227del NP_443077.1:p.Arg76del
NR_038118.1:n.298_300del
XM_024448961.1:c.225_227del XP_024304729.1:p.Arg76del
NM_052845.4:c.225_227del MANE Select NP_443077.1:p.Arg76del
NR_038118.2:n.249_251del