Canonical Allele Identifier: CA2578717794
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447577del , CM000668.2:g.49447577del GRCh38
NC_000006.11:g.49415290del , CM000668.1:g.49415290del GRCh37
NC_000006.10:g.49523249del NCBI36
NG_007100.1:g.20564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1560+94del MANE Select ENSP00000274813.3:n.1560+94del
ENST00000274813.3:c.1560+94del ENSP00000274813.3:n.1560+94del
NM_000255.3:c.1560+94del NP_000246.2:n.1560+94del
XM_005249143.2:c.1560+94del XP_005249200.1:n.1560+94del
XM_005249143.3:c.1560+94del XP_005249200.1:n.1560+94del
NM_000255.4:c.1560+94del MANE Select NP_000246.2:n.1560+94del