Canonical Allele Identifier: CA2499218332
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1883
ClinVar RCV Id: RCV000001960
dbSNP Id: rs2127419920
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457755_49457756del , CM000668.2:g.49457755_49457756del GRCh38
NC_000006.11:g.49425468_49425469del , CM000668.1:g.49425468_49425469del GRCh37
NC_000006.10:g.49533427_49533428del NCBI36
NG_007100.1:g.10385_10386del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.689_690del MANE Select ENSP00000274813.3:p.Thr230IlefsTer14
ENST00000274813.3:c.689_690del ENSP00000274813.3:p.Thr230IlefsTer14
NM_000255.3:c.689_690del NP_000246.2:p.Thr230IlefsTer14
XM_005249143.2:c.689_690del XP_005249200.1:p.Thr230IlefsTer14
XM_005249143.3:c.689_690del XP_005249200.1:p.Thr230IlefsTer14
NM_000255.4:c.689_690del MANE Select NP_000246.2:p.Thr230IlefsTer14
Search 100 bp 5'
Search 100 bp 3'