Canonical Allele Identifier: CA825483786
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1377910414
gnomAD v3: 6-49459148-TG-T
gnomAD v4: 6-49459148-TG-T
MyVariant Identifiers: chr6:g.49426862del (hg19) chr6:g.49459149del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459150del , CM000668.2:g.49459150del GRCh38
NC_000006.11:g.49426863del , CM000668.1:g.49426863del GRCh37
NC_000006.10:g.49534822del NCBI36
NG_007100.1:g.8991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.318del MANE Select ENSP00000274813.3:p.Ile107SerfsTer?
ENST00000274813.3:c.318del ENSP00000274813.3:p.Ile107SerfsTer?
NM_000255.3:c.318del NP_000246.2:p.Ile107SerfsTer?
XM_005249143.2:c.318del XP_005249200.1:p.Ile107SerfsTer?
XM_005249143.3:c.318del XP_005249200.1:p.Ile107SerfsTer?
NM_000255.4:c.318del MANE Select NP_000246.2:p.Ile107SerfsTer?
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