Canonical Allele Identifier: CA2679046139
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49444512-A-ATGGATGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444513_49444520dup , CM000668.2:g.49444513_49444520dup GRCh38
NC_000006.11:g.49412226_49412233dup , CM000668.1:g.49412226_49412233dup GRCh37
NC_000006.10:g.49520185_49520192dup NCBI36
NG_007100.1:g.23620_23627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+119_1676+126dup MANE Select ENSP00000274813.3:n.1676+119_1676+126dup
ENST00000274813.3:c.1676+119_1676+126dup ENSP00000274813.3:n.1676+119_1676+126dup
NM_000255.3:c.1676+119_1676+126dup NP_000246.2:n.1676+119_1676+126dup
XM_005249143.2:c.1676+119_1676+126dup XP_005249200.1:n.1676+119_1676+126dup
XM_005249143.3:c.1676+119_1676+126dup XP_005249200.1:n.1676+119_1676+126dup
NM_000255.4:c.1676+119_1676+126dup MANE Select NP_000246.2:n.1676+119_1676+126dup
Search 100 bp 5'
Search 100 bp 3'