Canonical Allele Identifier: CA2513533317
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444465_49444466insTTGT , CM000668.2:g.49444465_49444466insTTGT GRCh38
NC_000006.11:g.49412178_49412179insTTGT , CM000668.1:g.49412178_49412179insTTGT GRCh37
NC_000006.10:g.49520137_49520138insTTGT NCBI36
NG_007100.1:g.23674_23675insACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+173_1676+174insACAA MANE Select ENSP00000274813.3:n.1676+173_1676+174insACAA
ENST00000274813.3:c.1676+173_1676+174insACAA ENSP00000274813.3:n.1676+173_1676+174insACAA
NM_000255.3:c.1676+173_1676+174insACAA NP_000246.2:n.1676+173_1676+174insACAA
XM_005249143.2:c.1676+173_1676+174insACAA XP_005249200.1:n.1676+173_1676+174insACAA
XM_005249143.3:c.1676+173_1676+174insACAA XP_005249200.1:n.1676+173_1676+174insACAA
NM_000255.4:c.1676+173_1676+174insACAA MANE Select NP_000246.2:n.1676+173_1676+174insACAA