Canonical Allele Identifier: CA2770993543
Gene: MMUT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458080_49458081insAACCAAACACACCCAACACA , CM000668.2:g.49458080_49458081insAACCAAACACACCCAACACA GRCh38
NC_000006.11:g.49425793_49425794insAACCAAACACACCCAACACA , CM000668.1:g.49425793_49425794insAACCAAACACACCCAACACA GRCh37
NC_000006.10:g.49533752_49533753insAACCAAACACACCCAACACA NCBI36
NG_007100.1:g.10060_10061insGTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT MANE Select ENSP00000274813.3:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT
ENST00000274813.3:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT ENSP00000274813.3:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT
NM_000255.3:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT NP_000246.2:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT
XM_005249143.2:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT XP_005249200.1:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT
XM_005249143.3:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT XP_005249200.1:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT
NM_000255.4:c.386-22_386-21insGTGTTGGGTGTGTTTGGTTT MANE Select NP_000246.2:n.386-22_386-21insGTGTTGGGTGTGTTTGGTTT