Canonical Allele Identifier: CA2580085844

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2020905
• ClinVar RCV Id: RCV002866197

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561069_109561078dup , CM000674.2:g.109561069_109561078dup	GRCh38
NC_000012.11:g.109998874_109998883dup , CM000674.1:g.109998874_109998883dup	GRCh37
NC_000012.10:g.108483257_108483266dup	NCBI36
NG_007096.1:g.17420_17429dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.546_555dup MANE Select	ENSP00000445920.1:p.Arg186AlafsTer?
ENST00000537496.5:c.*111_*120dup	ENSP00000444793.1:n.*111_*120dup
ENST00000540016.5:c.390_399dup	ENSP00000474582.1:p.Arg134AlafsTer?
ENST00000541763.6:c.771_780dup	ENSP00000474981.1:n.771_780dup
ENST00000544051.5:c.*427_*436dup	ENSP00000438079.1:n.*427_*436dup
ENST00000545712.6:c.546_555dup	ENSP00000445920.1:p.Arg186AlafsTer?
NM_052845.3:c.546_555dup	NP_443077.1:p.Arg186AlafsTer?
NR_038118.1:n.706_715dup
XM_011538266.1:c.391_400dup	XP_011536568.1:p.Pro134ArgfsTer32
XM_011538267.1:c.391_400dup	XP_011536569.1:p.Pro134ArgfsTer32
XM_011538268.1:c.273_282dup	XP_011536570.1:p.Arg95AlafsTer?
XM_011538269.1:c.270_279dup	XP_011536571.1:p.Arg94AlafsTer?
XM_011538267.3:c.391_400dup	XP_011536569.1:p.Pro134ArgfsTer32
XM_011538268.2:c.273_282dup	XP_011536570.1:p.Arg95AlafsTer?
XM_011538269.2:c.270_279dup	XP_011536571.1:p.Arg94AlafsTer?
XM_024448961.1:c.546_555dup	XP_024304729.1:p.Arg186AlafsTer?
NM_052845.4:c.546_555dup MANE Select	NP_443077.1:p.Arg186AlafsTer?
NR_038118.2:n.657_666dup