Canonical Allele Identifier: CA10575880
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 222916
ClinVar RCV Id: RCV000235437
dbSNP Id: rs879253831
MyVariant Identifiers: chr6:g.49425542_49425544del (hg19) chr6:g.49457829_49457831del (hg38)
PubMed: PMID:25736335 PMID:27167370
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457833_49457835del , CM000668.2:g.49457833_49457835del GRCh38
NC_000006.11:g.49425546_49425548del , CM000668.1:g.49425546_49425548del GRCh37
NC_000006.10:g.49533505_49533507del NCBI36
NG_007100.1:g.10309_10311del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.613_615del MANE Select ENSP00000274813.3:p.Glu205del
ENST00000274813.3:c.613_615del ENSP00000274813.3:p.Glu205del
NM_000255.3:c.613_615del NP_000246.2:p.Glu205del
XM_005249143.2:c.613_615del XP_005249200.1:p.Glu205del
XM_005249143.3:c.613_615del XP_005249200.1:p.Glu205del
NM_000255.4:c.613_615del MANE Select NP_000246.2:p.Glu205del
Search 100 bp 5'
Search 100 bp 3'