Canonical Allele Identifier: CA683442873

Gene: MMAB

Linked Data

• dbSNP Id: rs1190920165
• gnomAD v3: 12-109568934-AAC-A
• gnomAD v4: 12-109568934-AAC-A
• MyVariant Identifiers: chr12:g.110006740_110006741del (hg19) ; chr12:g.109568935_109568936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568935_109568936del , CM000674.2:g.109568935_109568936del	GRCh38
NC_000012.11:g.110006740_110006741del , CM000674.1:g.110006740_110006741del	GRCh37
NC_000012.10:g.108491123_108491124del	NCBI36
NG_007096.1:g.9562_9563del
NG_007702.1:g.241_242del , LRG_156:g.241_242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-73_197-72del MANE Select	ENSP00000445920.1:n.197-73_197-72del
ENST00000420167.6:c.*26-73_*26-72del	ENSP00000416136.2:n.*26-73_*26-72del
ENST00000503497.7:c.197-73_197-72del	ENSP00000474881.1:n.197-73_197-72del
ENST00000536760.1:n.200-73_200-72del
ENST00000537236.2:c.197-73_197-72del	ENSP00000483818.1:n.197-73_197-72del
ENST00000537496.5:c.197-73_197-72del	ENSP00000444793.1:n.197-73_197-72del
ENST00000540016.5:c.135-3760_135-3759del	ENSP00000474582.1:n.135-3760_135-3759del
ENST00000541763.6:c.197-73_197-72del	ENSP00000474981.1:n.197-73_197-72del
ENST00000542390.5:n.224-73_224-72del
ENST00000544051.5:c.135-73_135-72del	ENSP00000438079.1:n.135-73_135-72del
ENST00000545712.6:c.197-73_197-72del	ENSP00000445920.1:n.197-73_197-72del
NM_052845.3:c.197-73_197-72del	NP_443077.1:n.197-73_197-72del
NR_038118.1:n.270-73_270-72del
XM_024448961.1:c.197-73_197-72del	XP_024304729.1:n.197-73_197-72del
NM_052845.4:c.197-73_197-72del MANE Select	NP_443077.1:n.197-73_197-72del
NR_038118.2:n.221-73_221-72del