Canonical Allele Identifier: CA3846949
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 590817
ClinVar RCV Id: RCV000721981 RCV001388284
dbSNP Id: rs771021560
ExAC: 6:49419362 C / CT
gnomAD v2: 6-49419362-C-CT
gnomAD v4: 6-49451649-C-CT
MyVariant Identifiers: chr6:g.49419363dup (hg19) chr6:g.49419362_49419363insT (hg19) chr6:g.49451650dup (hg38) chr6:g.49451649_49451650insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451650dup , CM000668.2:g.49451650dup GRCh38
NC_000006.11:g.49419363dup , CM000668.1:g.49419363dup GRCh37
NC_000006.10:g.49527322dup NCBI36
NG_007100.1:g.16490dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1148dup MANE Select ENSP00000274813.3:p.Ser384ValfsTer8
ENST00000274813.3:c.1148dup ENSP00000274813.3:p.Ser384ValfsTer8
NM_000255.3:c.1148dup NP_000246.2:p.Ser384ValfsTer8
XM_005249143.2:c.1148dup XP_005249200.1:p.Ser384ValfsTer8
XM_005249143.3:c.1148dup XP_005249200.1:p.Ser384ValfsTer8
NM_000255.4:c.1148dup MANE Select NP_000246.2:p.Ser384ValfsTer8
Search 100 bp 5'
Search 100 bp 3'