Canonical Allele Identifier: CA235527
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100712
ClinVar RCV Id: RCV000162236
dbSNP Id: rs483352788

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459051del , CM000668.2:g.49459051del GRCh38
NC_000006.11:g.49426764del , CM000668.1:g.49426764del GRCh37
NC_000006.10:g.49534723del NCBI36
NG_007100.1:g.9089del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+31del MANE Select ENSP00000274813.3:n.385+31del
ENST00000274813.3:c.385+31del ENSP00000274813.3:n.385+31del
NM_000255.3:c.385+31del NP_000246.2:n.385+31del
XM_005249143.2:c.385+31del XP_005249200.1:n.385+31del
XM_005249143.3:c.385+31del XP_005249200.1:n.385+31del
NM_000255.4:c.385+31del MANE Select NP_000246.2:n.385+31del