Canonical Allele Identifier: CA2679046390
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2960140
ClinVar RCV Id: RCV003814900
gnomAD v4: 6-49447654-A-AG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447655dup , CM000668.2:g.49447655dup GRCh38
NC_000006.11:g.49415368dup , CM000668.1:g.49415368dup GRCh37
NC_000006.10:g.49523327dup NCBI36
NG_007100.1:g.20485dup

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+15dup MANE Select ENSP00000274813.3:n.1560+15dup
ENST00000274813.3:c.1560+15dup ENSP00000274813.3:n.1560+15dup
NM_000255.3:c.1560+15dup NP_000246.2:n.1560+15dup
XM_005249143.2:c.1560+15dup XP_005249200.1:n.1560+15dup
XM_005249143.3:c.1560+15dup XP_005249200.1:n.1560+15dup
NM_000255.4:c.1560+15dup MANE Select NP_000246.2:n.1560+15dup
Search 100 bp 5'
Search 100 bp 3'