Canonical Allele Identifier: CA567155986
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 556535
ClinVar RCV Id: RCV000672555 RCV001376622
dbSNP Id: rs1476515561
gnomAD v2: 6-49419396-ATTGCAGTACGGACAATATTATTG-A
gnomAD v3: 6-49451683-ATTGCAGTACGGACAATATTATTG-A
gnomAD v4: 6-49451683-ATTGCAGTACGGACAATATTATTG-A
MyVariant Identifiers: chr6:g.49419397_49419419del (hg19) chr6:g.49451684_49451706del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451685_49451707del , CM000668.2:g.49451685_49451707del GRCh38
NC_000006.11:g.49419398_49419420del , CM000668.1:g.49419398_49419420del GRCh37
NC_000006.10:g.49527357_49527379del NCBI36
NG_007100.1:g.16434_16456del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1092_1114del MANE Select ENSP00000274813.3:p.Asn365ArgfsTer19
ENST00000274813.3:c.1092_1114del ENSP00000274813.3:p.Asn365ArgfsTer19
NM_000255.3:c.1092_1114del NP_000246.2:p.Asn365ArgfsTer19
XM_005249143.2:c.1092_1114del XP_005249200.1:p.Asn365ArgfsTer19
XM_005249143.3:c.1092_1114del XP_005249200.1:p.Asn365ArgfsTer19
NM_000255.4:c.1092_1114del MANE Select NP_000246.2:p.Asn365ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'