Canonical Allele Identifier: CA2499218333
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1073471
ClinVar RCV Id: RCV001386490
dbSNP Id: rs777296241
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457791del , CM000668.2:g.49457791del GRCh38
NC_000006.11:g.49425504del , CM000668.1:g.49425504del GRCh37
NC_000006.10:g.49533463del NCBI36
NG_007100.1:g.10352del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.656del MANE Select ENSP00000274813.3:p.Asn219MetfsTer4
ENST00000274813.3:c.656del ENSP00000274813.3:p.Asn219MetfsTer4
NM_000255.3:c.656del NP_000246.2:p.Asn219MetfsTer4
XM_005249143.2:c.656del XP_005249200.1:p.Asn219MetfsTer4
XM_005249143.3:c.656del XP_005249200.1:p.Asn219MetfsTer4
NM_000255.4:c.656del MANE Select NP_000246.2:p.Asn219MetfsTer4
Search 100 bp 5'
Search 100 bp 3'