Canonical Allele Identifier: CA658822561

Gene: MMAB

Linked Data

• ClinVar Variation Id: 558125
• ClinVar RCV Id: RCV000674351
• dbSNP Id: rs1555275604
• gnomAD v4: 12-109568864-CT-C
• MyVariant Identifiers: chr12:g.109568865del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568865del , CM000674.2:g.109568865del	GRCh38
NC_000012.11:g.110006670del , CM000674.1:g.110006670del	GRCh37
NC_000012.10:g.108491053del	NCBI36
NG_007096.1:g.9633del
NG_007702.1:g.171del , LRG_156:g.171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-2del MANE Select	ENSP00000445920.1:n.197-2del
ENST00000420167.6:c.*26-2del	ENSP00000416136.2:n.*26-2del
ENST00000503497.7:c.197-2del	ENSP00000474881.1:n.197-2del
ENST00000536760.1:n.200-2del
ENST00000537236.2:c.197-2del	ENSP00000483818.1:n.197-2del
ENST00000537496.5:c.197-2del	ENSP00000444793.1:n.197-2del
ENST00000540016.5:c.135-3689del	ENSP00000474582.1:n.135-3689del
ENST00000541763.6:c.197-2del	ENSP00000474981.1:n.197-2del
ENST00000542390.5:n.224-2del
ENST00000544051.5:c.135-2del	ENSP00000438079.1:n.135-2del
ENST00000545712.6:c.197-2del	ENSP00000445920.1:n.197-2del
NM_052845.3:c.197-2del	NP_443077.1:n.197-2del
NR_038118.1:n.270-2del
XM_024448961.1:c.197-2del	XP_024304729.1:n.197-2del
NM_052845.4:c.197-2del MANE Select	NP_443077.1:n.197-2del
NR_038118.2:n.221-2del