Canonical Allele Identifier: CA2620813698

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568902-T-TATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568902_109568903insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA , CM000674.2:g.109568902_109568903insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA	GRCh38
NC_000012.11:g.110006707_110006708insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA , CM000674.1:g.110006707_110006708insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA	GRCh37
NC_000012.10:g.108491090_108491091insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA	NCBI36
NG_007096.1:g.9595_9596insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT
NG_007702.1:g.208_209insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA , LRG_156:g.208_209insATTGGATGTACTGTGCATTATACTAACTCACCTCTTTCACTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT MANE Select	ENSP00000445920.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000420167.6:c.*26-40_*26-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000416136.2:n.*26-40_*26-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000503497.7:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000474881.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000536760.1:n.200-40_200-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT
ENST00000537236.2:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000483818.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000537496.5:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000444793.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000540016.5:c.135-3727_135-3726insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000474582.1:n.135-3727_135-3726insTGAGTGAAAGAGGTGAGTTAG...
ENST00000541763.6:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000474981.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000542390.5:n.224-40_224-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT
ENST00000544051.5:c.135-40_135-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000438079.1:n.135-40_135-39insTGAGTGAAAGAGGTGAGTTAGTATA...
ENST00000545712.6:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	ENSP00000445920.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATA...
NM_052845.3:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	NP_443077.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCAC...
NR_038118.1:n.270-40_270-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT
XM_024448961.1:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT	XP_024304729.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATG...
NM_052845.4:c.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT MANE Select	NP_443077.1:n.197-40_197-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCAC...
NR_038118.2:n.221-40_221-39insTGAGTGAAAGAGGTGAGTTAGTATAATGCACAGTACATCCAAT