Canonical Allele Identifier: CA2679045323
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49431719-AAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431722_49431723del , CM000668.2:g.49431722_49431723del GRCh38
NC_000006.11:g.49399435_49399436del , CM000668.1:g.49399435_49399436del GRCh37
NC_000006.10:g.49507394_49507395del NCBI36
NG_007100.1:g.36419_36420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.*7_*8del MANE Select ENSP00000274813.3:n.*7_*8del
ENST00000274813.3:c.*7_*8del ENSP00000274813.3:n.*7_*8del
NM_000255.3:c.*7_*8del NP_000246.2:n.*7_*8del
XM_005249143.2:c.*7_*8del XP_005249200.1:n.*7_*8del
XM_005249143.3:c.*7_*8del XP_005249200.1:n.*7_*8del
NM_000255.4:c.*7_*8del MANE Select NP_000246.2:n.*7_*8del
Search 100 bp 5'
Search 100 bp 3'