Canonical Allele Identifier: CA2575285617
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568949del , CM000674.2:g.109568949del GRCh38
NC_000012.11:g.110006754del , CM000674.1:g.110006754del GRCh37
NC_000012.10:g.108491137del NCBI36
NG_007096.1:g.9552del
NG_007702.1:g.255del , LRG_156:g.255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.197-83del MANE Select ENSP00000445920.1:n.197-83del
ENST00000420167.6:c.*26-83del ENSP00000416136.2:n.*26-83del
ENST00000503497.7:c.197-83del ENSP00000474881.1:n.197-83del
ENST00000536760.1:n.200-83del
ENST00000537236.2:c.197-83del ENSP00000483818.1:n.197-83del
ENST00000537496.5:c.197-83del ENSP00000444793.1:n.197-83del
ENST00000540016.5:c.135-3770del ENSP00000474582.1:n.135-3770del
ENST00000541763.6:c.197-83del ENSP00000474981.1:n.197-83del
ENST00000542390.5:n.224-83del
ENST00000544051.5:c.135-83del ENSP00000438079.1:n.135-83del
ENST00000545712.6:c.197-83del ENSP00000445920.1:n.197-83del
NM_052845.3:c.197-83del NP_443077.1:n.197-83del
NR_038118.1:n.270-83del
XM_024448961.1:c.197-83del XP_024304729.1:n.197-83del
NM_052845.4:c.197-83del MANE Select NP_443077.1:n.197-83del
NR_038118.2:n.221-83del