Canonical Allele Identifier: CA235530
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100715
ClinVar RCV Id: RCV000162239
dbSNP Id: rs483352802
MyVariant Identifiers: chr6:g.49426752del (hg19) chr6:g.49459039del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459039del , CM000668.2:g.49459039del GRCh38
NC_000006.11:g.49426752del , CM000668.1:g.49426752del GRCh37
NC_000006.10:g.49534711del NCBI36
NG_007100.1:g.9101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+43del MANE Select ENSP00000274813.3:n.385+43del
ENST00000274813.3:c.385+43del ENSP00000274813.3:n.385+43del
NM_000255.3:c.385+43del NP_000246.2:n.385+43del
XM_005249143.2:c.385+43del XP_005249200.1:n.385+43del
XM_005249143.3:c.385+43del XP_005249200.1:n.385+43del
NM_000255.4:c.385+43del MANE Select NP_000246.2:n.385+43del
Search 100 bp 5'
Search 100 bp 3'