Canonical Allele Identifier: CA3846984
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000669504
RCV000780494
RCV001271711
RCV001376592
ClinVar Variation:
553958
dbSNP:
752898811
gnomAD v2:
6:49421358 G / GT
gnomAD v4:
chr6-49453645-G-GT
Joint Max Group AF 0.00003234 (AMR)
Exomes Max Group AF 0.0000436 (AMR)
MyVariant.info:
GRCh38 chr6:g.49453646dup
GRCh38 chr6:g.49453645_49453646insT
GRCh37 chr6:g.49421358_49421359insT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49453650dup , CM000668.2:g.49453650dup GRCh38
NC_000006.11:g.49421363dup , CM000668.1:g.49421363dup GRCh37
NC_000006.10:g.49529322dup NCBI36
NG_007100.1:g.14494dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1022dup MANE Select ENSP00000274813.3:p.Asn341LysfsTer20
ENST00000274813.3:c.1022dup ENSP00000274813.3:p.Asn341LysfsTer20
NM_000255.3:c.1022dup NP_000246.2:p.Asn341LysfsTer20
XM_005249143.2:c.1022dup XP_005249200.1:p.Asn341LysfsTer20
XM_005249143.3:c.1022dup XP_005249200.1:p.Asn341LysfsTer20
NM_000255.4:c.1022dup MANE Select NP_000246.2:p.Asn341LysfsTer20
Search 100 bp 5'
Search 100 bp 3'