Canonical Allele Identifier: CA2695217240

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568770_109568771del , CM000674.2:g.109568770_109568771del	GRCh38
NC_000012.11:g.110006575_110006576del , CM000674.1:g.110006575_110006576del	GRCh37
NC_000012.10:g.108490958_108490959del	NCBI36
NG_007096.1:g.9728_9729del
NG_007702.1:g.76_77del , LRG_156:g.76_77del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290_290+1del
ENST00000420167.6:c.*119_*119+1del
ENST00000503497.7:c.290_290+1del
ENST00000536760.1:n.293_293+1del
ENST00000537236.2:c.290_291del	ENSP00000483818.1:p.Gly97ValfsTer16
ENST00000537496.5:c.290_290+1del
ENST00000540016.5:c.135-3594_135-3593del	ENSP00000474582.1:n.135-3594_135-3593del
ENST00000541763.6:c.290_290+1del
ENST00000542390.5:n.317_317+1del
ENST00000544051.5:c.*84_*84+1del
ENST00000545712.6:c.290_290+1del
NM_052845.3:c.290_290+1del
NR_038118.1:n.363_363+1del
XM_024448961.1:c.290_290+1del
NM_052845.4:c.290_290+1del
NR_038118.2:n.314_314+1del