Canonical Allele Identifier: CA913110642
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49419396_49419419del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451683_49451706del , CM000668.2:g.49451683_49451706del GRCh38
NC_000006.11:g.49419396_49419419del , CM000668.1:g.49419396_49419419del GRCh37
NC_000006.10:g.49527355_49527378del NCBI36
NG_007100.1:g.16434_16457del

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1092_1115del MANE Select ENSP00000274813.3:p.Tyr364Ter
ENST00000274813.3:c.1092_1115del ENSP00000274813.3:p.Tyr364Ter
NM_000255.3:c.1092_1115del NP_000246.2:p.Tyr364Ter
XM_005249143.2:c.1092_1115del XP_005249200.1:p.Tyr364Ter
XM_005249143.3:c.1092_1115del XP_005249200.1:p.Tyr364Ter
NM_000255.4:c.1092_1115del MANE Select NP_000246.2:p.Tyr364Ter
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