Canonical Allele Identifier: CA567156061
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2996478
ClinVar RCV Id: RCV003856629
dbSNP Id: rs1315464682
gnomAD v2: 6-49426981-TC-T
gnomAD v3: 6-49459268-TC-T
gnomAD v4: 6-49459268-TC-T
MyVariant Identifiers: chr6:g.49426982del (hg19) chr6:g.49459269del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459271del , CM000668.2:g.49459271del GRCh38
NC_000006.11:g.49426984del , CM000668.1:g.49426984del GRCh37
NC_000006.10:g.49534943del NCBI36
NG_007100.1:g.8871del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.198del MANE Select ENSP00000274813.3:p.Ile67SerfsTer3
ENST00000274813.3:c.198del ENSP00000274813.3:p.Ile67SerfsTer3
NM_000255.3:c.198del NP_000246.2:p.Ile67SerfsTer3
XM_005249143.2:c.198del XP_005249200.1:p.Ile67SerfsTer3
XM_005249143.3:c.198del XP_005249200.1:p.Ile67SerfsTer3
NM_000255.4:c.198del MANE Select NP_000246.2:p.Ile67SerfsTer3
Search 100 bp 5'
Search 100 bp 3'