Canonical Allele Identifier: CA566931415
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1311951789
gnomAD v2: 6-49426701-G-GA
gnomAD v3: 6-49458988-G-GA
gnomAD v4: 6-49458988-G-GA
MyVariant Identifiers: chr6:g.49426701_49426702insA (hg19) chr6:g.49458988_49458989insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458990dup , CM000668.2:g.49458990dup GRCh38
NC_000006.11:g.49426703dup , CM000668.1:g.49426703dup GRCh37
NC_000006.10:g.49534662dup NCBI36
NG_007100.1:g.9151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+93dup MANE Select ENSP00000274813.3:n.385+93dup
ENST00000274813.3:c.385+93dup ENSP00000274813.3:n.385+93dup
NM_000255.3:c.385+93dup NP_000246.2:n.385+93dup
XM_005249143.2:c.385+93dup XP_005249200.1:n.385+93dup
XM_005249143.3:c.385+93dup XP_005249200.1:n.385+93dup
NM_000255.4:c.385+93dup MANE Select NP_000246.2:n.385+93dup
Search 100 bp 5'
Search 100 bp 3'