Canonical Allele Identifier: CA2596869861
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs2127420307
gnomAD v3: 6-49458947-CT-C
gnomAD v4: 6-49458947-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458953del , CM000668.2:g.49458953del GRCh38
NC_000006.11:g.49426666del , CM000668.1:g.49426666del GRCh37
NC_000006.10:g.49534625del NCBI36
NG_007100.1:g.9192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+134del MANE Select ENSP00000274813.3:n.385+134del
ENST00000274813.3:c.385+134del ENSP00000274813.3:n.385+134del
NM_000255.3:c.385+134del NP_000246.2:n.385+134del
XM_005249143.2:c.385+134del XP_005249200.1:n.385+134del
XM_005249143.3:c.385+134del XP_005249200.1:n.385+134del
NM_000255.4:c.385+134del MANE Select NP_000246.2:n.385+134del
Search 100 bp 5'
Search 100 bp 3'