Canonical Allele Identifier: CA2544888496
Gene: MMUT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459161_49459162insCATGGTGGCCTGCGGGCCGCGC , CM000668.2:g.49459161_49459162insCATGGTGGCCTGCGGGCCGCGC GRCh38
NC_000006.11:g.49426874_49426875insCATGGTGGCCTGCGGGCCGCGC , CM000668.1:g.49426874_49426875insCATGGTGGCCTGCGGGCCGCGC GRCh37
NC_000006.10:g.49534833_49534834insCATGGTGGCCTGCGGGCCGCGC NCBI36
NG_007100.1:g.8978_8979insGCGCGGCCCGCAGGCCACCATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.305_306insGCGCGGCCCGCAGGCCACCATG MANE Select ENSP00000274813.3:p.Phe102LeufsTer9
ENST00000274813.3:c.305_306insGCGCGGCCCGCAGGCCACCATG ENSP00000274813.3:p.Phe102LeufsTer9
NM_000255.3:c.305_306insGCGCGGCCCGCAGGCCACCATG NP_000246.2:p.Phe102LeufsTer9
XM_005249143.2:c.305_306insGCGCGGCCCGCAGGCCACCATG XP_005249200.1:p.Phe102LeufsTer9
XM_005249143.3:c.305_306insGCGCGGCCCGCAGGCCACCATG XP_005249200.1:p.Phe102LeufsTer9
NM_000255.4:c.305_306insGCGCGGCCCGCAGGCCACCATG MANE Select NP_000246.2:p.Phe102LeufsTer9
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