Canonical Allele Identifier: CA567155985
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 578141
ClinVar RCV Id: RCV000701062 RCV001174604 RCV001271708 RCV001376573
dbSNP Id: rs1227030642
gnomAD v2: 6-49419313-TCA-T
gnomAD v4: 6-49451600-TCA-T
MyVariant Identifiers: chr6:g.49419314_49419315del (hg19) chr6:g.49451601_49451602del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451603_49451604del , CM000668.2:g.49451603_49451604del GRCh38
NC_000006.11:g.49419316_49419317del , CM000668.1:g.49419316_49419317del GRCh37
NC_000006.10:g.49527275_49527276del NCBI36
NG_007100.1:g.16538_16539del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1196_1197del MANE Select ENSP00000274813.3:p.Val399GlufsTer24
ENST00000274813.3:c.1196_1197del ENSP00000274813.3:p.Val399GlufsTer24
NM_000255.3:c.1196_1197del NP_000246.2:p.Val399GlufsTer24
XM_005249143.2:c.1196_1197del XP_005249200.1:p.Val399GlufsTer24
XM_005249143.3:c.1196_1197del XP_005249200.1:p.Val399GlufsTer24
NM_000255.4:c.1196_1197del MANE Select NP_000246.2:p.Val399GlufsTer24
Search 100 bp 5'
Search 100 bp 3'