Canonical Allele Identifier: CA2679046694
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49451629-AAAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451632_49451634del , CM000668.2:g.49451632_49451634del GRCh38
NC_000006.11:g.49419345_49419347del , CM000668.1:g.49419345_49419347del GRCh37
NC_000006.10:g.49527304_49527306del NCBI36
NG_007100.1:g.16508_16510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1166_1168del MANE Select ENSP00000274813.3:p.Ser389del
ENST00000274813.3:c.1166_1168del ENSP00000274813.3:p.Ser389del
NM_000255.3:c.1166_1168del NP_000246.2:p.Ser389del
XM_005249143.2:c.1166_1168del XP_005249200.1:p.Ser389del
XM_005249143.3:c.1166_1168del XP_005249200.1:p.Ser389del
NM_000255.4:c.1166_1168del MANE Select NP_000246.2:p.Ser389del
Search 100 bp 5'
Search 100 bp 3'