Canonical Allele Identifier: CA1139659594
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 978687
ClinVar RCV Id: RCV001257411
dbSNP Id: rs1767558588
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451696del , CM000668.2:g.49451696del GRCh38
NC_000006.11:g.49419409del , CM000668.1:g.49419409del GRCh37
NC_000006.10:g.49527368del NCBI36
NG_007100.1:g.16444del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1102del MANE Select ENSP00000274813.3:p.Val368SerfsTer5
ENST00000274813.3:c.1102del ENSP00000274813.3:p.Val368SerfsTer5
NM_000255.3:c.1102del NP_000246.2:p.Val368SerfsTer5
XM_005249143.2:c.1102del XP_005249200.1:p.Val368SerfsTer5
XM_005249143.3:c.1102del XP_005249200.1:p.Val368SerfsTer5
NM_000255.4:c.1102del MANE Select NP_000246.2:p.Val368SerfsTer5
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