Canonical Allele Identifier: CA450608622
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 863700
ClinVar RCV Id: RCV001070729
dbSNP Id: rs1767735337
gnomAD v4: 6-49457929-AT-A
COSMIC: COSM1684079
MyVariant Identifiers: chr6:g.49425646del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457933del , CM000668.2:g.49457933del GRCh38
NC_000006.11:g.49425646del , CM000668.1:g.49425646del GRCh37
NC_000006.10:g.49533605del NCBI36
NG_007100.1:g.10210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.514del MANE Select ENSP00000274813.3:p.Ile172PhefsTer8
ENST00000274813.3:c.514del ENSP00000274813.3:p.Ile172PhefsTer8
NM_000255.3:c.514del NP_000246.2:p.Ile172PhefsTer8
XM_005249143.2:c.514del XP_005249200.1:p.Ile172PhefsTer8
XM_005249143.3:c.514del XP_005249200.1:p.Ile172PhefsTer8
NM_000255.4:c.514del MANE Select NP_000246.2:p.Ile172PhefsTer8
Search 100 bp 5'
Search 100 bp 3'