Canonical Allele Identifier: CA2841020023
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457940_49457941insATTAGACTTG , CM000668.2:g.49457940_49457941insATTAGACTTG GRCh38
NC_000006.11:g.49425653_49425654insATTAGACTTG , CM000668.1:g.49425653_49425654insATTAGACTTG GRCh37
NC_000006.10:g.49533612_49533613insATTAGACTTG NCBI36
NG_007100.1:g.10199_10200insCAAGTCTAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.503_504insCAAGTCTAAT MANE Select ENSP00000274813.3:p.Glu168AspfsTer11
ENST00000274813.3:c.503_504insCAAGTCTAAT ENSP00000274813.3:p.Glu168AspfsTer11
NM_000255.3:c.503_504insCAAGTCTAAT NP_000246.2:p.Glu168AspfsTer11
XM_005249143.2:c.503_504insCAAGTCTAAT XP_005249200.1:p.Glu168AspfsTer11
XM_005249143.3:c.503_504insCAAGTCTAAT XP_005249200.1:p.Glu168AspfsTer11
NM_000255.4:c.503_504insCAAGTCTAAT MANE Select NP_000246.2:p.Glu168AspfsTer11