Canonical Allele Identifier: CA2770993423
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444505del , CM000668.2:g.49444505del GRCh38
NC_000006.11:g.49412218del , CM000668.1:g.49412218del GRCh37
NC_000006.10:g.49520177del NCBI36
NG_007100.1:g.23637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+136del MANE Select ENSP00000274813.3:n.1676+136del
ENST00000274813.3:c.1676+136del ENSP00000274813.3:n.1676+136del
NM_000255.3:c.1676+136del NP_000246.2:n.1676+136del
XM_005249143.2:c.1676+136del XP_005249200.1:n.1676+136del
XM_005249143.3:c.1676+136del XP_005249200.1:n.1676+136del
NM_000255.4:c.1676+136del MANE Select NP_000246.2:n.1676+136del