Canonical Allele Identifier: CA683438237

Gene: MMAB

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561048_109561051dup , CM000674.2:g.109561048_109561051dup	GRCh38
NC_000012.11:g.109998853_109998856dup , CM000674.1:g.109998853_109998856dup	GRCh37
NC_000012.10:g.108483236_108483239dup	NCBI36
NG_007096.1:g.17448_17451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.574_577dup MANE Select	ENSP00000445920.1:p.Glu193GlyfsTer27
ENST00000537496.5:c.*139_*142dup	ENSP00000444793.1:n.*139_*142dup
ENST00000540016.5:c.418_421dup	ENSP00000474582.1:p.Glu141GlyfsTer27
ENST00000541763.6:c.799_802dup	ENSP00000474981.1:n.799_802dup
ENST00000544051.5:c.*455_*458dup	ENSP00000438079.1:n.*455_*458dup
ENST00000545712.6:c.574_577dup	ENSP00000445920.1:p.Glu193GlyfsTer27
NM_052845.3:c.574_577dup	NP_443077.1:p.Glu193GlyfsTer27
NR_038118.1:n.734_737dup
XM_011538266.1:c.419_422dup	XP_011536568.1:p.Glu142ProfsTer22
XM_011538267.1:c.419_422dup	XP_011536569.1:p.Glu142ProfsTer22
XM_011538268.1:c.301_304dup	XP_011536570.1:p.Glu102GlyfsTer27
XM_011538269.1:c.298_301dup	XP_011536571.1:p.Glu101GlyfsTer27
XM_011538267.3:c.419_422dup	XP_011536569.1:p.Glu142ProfsTer22
XM_011538268.2:c.301_304dup	XP_011536570.1:p.Glu102GlyfsTer27
XM_011538269.2:c.298_301dup	XP_011536571.1:p.Glu101GlyfsTer27
XM_024448961.1:c.574_577dup	XP_024304729.1:p.Glu193GlyfsTer?
NM_052845.4:c.574_577dup MANE Select	NP_443077.1:p.Glu193GlyfsTer27
NR_038118.2:n.685_688dup