Canonical Allele Identifier: CA567155988
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 553287
ClinVar RCV Id: RCV000668699 RCV001384467 RCV001829849
dbSNP Id: rs1437477079
gnomAD v2: 6-49427150-T-TA
gnomAD v3: 6-49459437-T-TA
gnomAD v4: 6-49459437-T-TA
MyVariant Identifiers: chr6:g.49427150_49427151insA (hg19) chr6:g.49459438dup (hg38) chr6:g.49459437_49459438insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459444dup , CM000668.2:g.49459444dup GRCh38
NC_000006.11:g.49427157dup , CM000668.1:g.49427157dup GRCh37
NC_000006.10:g.49535116dup NCBI36
NG_007100.1:g.8702dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.29dup MANE Select ENSP00000274813.3:p.Leu10PhefsTer?
ENST00000274813.3:c.29dup ENSP00000274813.3:p.Leu10PhefsTer?
NM_000255.3:c.29dup NP_000246.2:p.Leu10PhefsTer?
XM_005249143.2:c.29dup XP_005249200.1:p.Leu10PhefsTer?
XM_005249143.3:c.29dup XP_005249200.1:p.Leu10PhefsTer?
NM_000255.4:c.29dup MANE Select NP_000246.2:p.Leu10PhefsTer?
Search 100 bp 5'
Search 100 bp 3'