Canonical Allele Identifier: CA2695206699
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459244del , CM000668.2:g.49459244del GRCh38
NC_000006.11:g.49426957del , CM000668.1:g.49426957del GRCh37
NC_000006.10:g.49534916del NCBI36
NG_007100.1:g.8897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.224del MANE Select ENSP00000274813.3:p.Lys75ArgfsTer14
ENST00000274813.3:c.224del ENSP00000274813.3:p.Lys75ArgfsTer14
NM_000255.3:c.224del NP_000246.2:p.Lys75ArgfsTer14
XM_005249143.2:c.224del XP_005249200.1:p.Lys75ArgfsTer14
XM_005249143.3:c.224del XP_005249200.1:p.Lys75ArgfsTer14
NM_000255.4:c.224del MANE Select NP_000246.2:p.Lys75ArgfsTer14