Canonical Allele Identifier: CA10575857
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 222941
ClinVar RCV Id: RCV000236665
dbSNP Id: rs879253850
MyVariant Identifiers: chr6:g.49399498_49399501dupGGCA (hg19) chr6:g.49399497_49399498insGGCA (hg19) chr6:g.49431785_49431788dupGGCA (hg38) chr6:g.49431784_49431785insGGCA (hg38)
PubMed: PMID:25736335 PMID:27167370
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431786_49431789dup , CM000668.2:g.49431786_49431789dup GRCh38
NC_000006.11:g.49399499_49399502dup , CM000668.1:g.49399499_49399502dup GRCh37
NC_000006.10:g.49507458_49507461dup NCBI36
NG_007100.1:g.36352_36355dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2193_2196dup MANE Select ENSP00000274813.3:p.Val733CysfsTer6
ENST00000274813.3:c.2193_2196dup ENSP00000274813.3:p.Val733CysfsTer6
NM_000255.3:c.2193_2196dup NP_000246.2:p.Val733CysfsTer6
XM_005249143.2:c.2193_2196dup XP_005249200.1:p.Val733CysfsTer6
XM_005249143.3:c.2193_2196dup XP_005249200.1:p.Val733CysfsTer6
NM_000255.4:c.2193_2196dup MANE Select NP_000246.2:p.Val733CysfsTer6
Search 100 bp 5'
Search 100 bp 3'