Canonical Allele Identifier: CA2695206701
Gene: MMUT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459326_49459327insAAAA , CM000668.2:g.49459326_49459327insAAAA GRCh38
NC_000006.11:g.49427039_49427040insAAAA , CM000668.1:g.49427039_49427040insAAAA GRCh37
NC_000006.10:g.49534998_49534999insAAAA NCBI36
NG_007100.1:g.8814_8815insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.141_142insTTTT MANE Select ENSP00000274813.3:p.Lys48PhefsTer2
ENST00000274813.3:c.141_142insTTTT ENSP00000274813.3:p.Lys48PhefsTer2
NM_000255.3:c.141_142insTTTT NP_000246.2:p.Lys48PhefsTer2
XM_005249143.2:c.141_142insTTTT XP_005249200.1:p.Lys48PhefsTer2
XM_005249143.3:c.141_142insTTTT XP_005249200.1:p.Lys48PhefsTer2
NM_000255.4:c.141_142insTTTT MANE Select NP_000246.2:p.Lys48PhefsTer2
Search 100 bp 5'
Search 100 bp 3'