Canonical Allele Identifier: CA3847072
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 554641
ClinVar RCV Id: RCV000670315 RCV001271715 RCV001376616 RCV001293582
dbSNP Id: rs758008398
ExAC: 6:49425478 C / CCATAAATT
gnomAD v2: 6-49425478-C-CCATAAATT
gnomAD v4: 6-49457765-C-CCATAAATT
MyVariant Identifiers: chr6:g.49425478_49425479insCATAAATT (hg19) chr6:g.49457766_49457773dup (hg38) chr6:g.49457765_49457766insCATAAATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457767_49457774dup , CM000668.2:g.49457767_49457774dup GRCh38
NC_000006.11:g.49425480_49425487dup , CM000668.1:g.49425480_49425487dup GRCh37
NC_000006.10:g.49533439_49533446dup NCBI36
NG_007100.1:g.10367_10374dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.671_678dup MANE Select ENSP00000274813.3:p.Val227AsnfsTer16
ENST00000274813.3:c.671_678dup ENSP00000274813.3:p.Val227AsnfsTer16
NM_000255.3:c.671_678dup NP_000246.2:p.Val227AsnfsTer16
XM_005249143.2:c.671_678dup XP_005249200.1:p.Val227AsnfsTer16
XM_005249143.3:c.671_678dup XP_005249200.1:p.Val227AsnfsTer16
NM_000255.4:c.671_678dup MANE Select NP_000246.2:p.Val227AsnfsTer16
Search 100 bp 5'
Search 100 bp 3'