Canonical Allele Identifier: CA2620813714

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568917-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568918_109568919insTT , CM000674.2:g.109568918_109568919insTT	GRCh38
NC_000012.11:g.110006723_110006724insTT , CM000674.1:g.110006723_110006724insTT	GRCh37
NC_000012.10:g.108491106_108491107insTT	NCBI36
NG_007096.1:g.9580_9581insAA
NG_007702.1:g.224_225insTT , LRG_156:g.224_225insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-55_197-54insAA MANE Select	ENSP00000445920.1:n.197-55_197-54insAA
ENST00000420167.6:c.*26-55_*26-54insAA	ENSP00000416136.2:n.*26-55_*26-54insAA
ENST00000503497.7:c.197-55_197-54insAA	ENSP00000474881.1:n.197-55_197-54insAA
ENST00000536760.1:n.200-55_200-54insAA
ENST00000537236.2:c.197-55_197-54insAA	ENSP00000483818.1:n.197-55_197-54insAA
ENST00000537496.5:c.197-55_197-54insAA	ENSP00000444793.1:n.197-55_197-54insAA
ENST00000540016.5:c.135-3742_135-3741insAA	ENSP00000474582.1:n.135-3742_135-3741insAA
ENST00000541763.6:c.197-55_197-54insAA	ENSP00000474981.1:n.197-55_197-54insAA
ENST00000542390.5:n.224-55_224-54insAA
ENST00000544051.5:c.135-55_135-54insAA	ENSP00000438079.1:n.135-55_135-54insAA
ENST00000545712.6:c.197-55_197-54insAA	ENSP00000445920.1:n.197-55_197-54insAA
NM_052845.3:c.197-55_197-54insAA	NP_443077.1:n.197-55_197-54insAA
NR_038118.1:n.270-55_270-54insAA
XM_024448961.1:c.197-55_197-54insAA	XP_024304729.1:n.197-55_197-54insAA
NM_052845.4:c.197-55_197-54insAA MANE Select	NP_443077.1:n.197-55_197-54insAA
NR_038118.2:n.221-55_221-54insAA