Canonical Allele Identifier: CA3846834
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1258681
ClinVar RCV Id: RCV001671211
dbSNP Id: rs56408395
ExAC: 6:49415351 T / TA
gnomAD v2: 6-49415351-T-TA
gnomAD v3: 6-49447638-T-TA
gnomAD v4: 6-49447638-T-TA
MyVariant Identifiers: chr6:g.49415353_49415354insA (hg19) chr6:g.49415351_49415352insA (hg19) chr6:g.49447640_49447641insA (hg38) chr6:g.49447638_49447639insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447654dup , CM000668.2:g.49447654dup GRCh38
NC_000006.11:g.49415367dup , CM000668.1:g.49415367dup GRCh37
NC_000006.10:g.49523326dup NCBI36
NG_007100.1:g.20501dup

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+31dup MANE Select ENSP00000274813.3:n.1560+31dup
ENST00000274813.3:c.1560+31dup ENSP00000274813.3:n.1560+31dup
NM_000255.3:c.1560+31dup NP_000246.2:n.1560+31dup
XM_005249143.2:c.1560+31dup XP_005249200.1:n.1560+31dup
XM_005249143.3:c.1560+31dup XP_005249200.1:n.1560+31dup
NM_000255.4:c.1560+31dup MANE Select NP_000246.2:n.1560+31dup
Search 100 bp 5'
Search 100 bp 3'