Canonical Allele Identifier: CA825471254
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1334291700
gnomAD v3: 6-49444472-TA-T
gnomAD v4: 6-49444472-TA-T
MyVariant Identifiers: chr6:g.49412186del (hg19) chr6:g.49444473del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444475del , CM000668.2:g.49444475del GRCh38
NC_000006.11:g.49412188del , CM000668.1:g.49412188del GRCh37
NC_000006.10:g.49520147del NCBI36
NG_007100.1:g.23667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+166del MANE Select ENSP00000274813.3:n.1676+166del
ENST00000274813.3:c.1676+166del ENSP00000274813.3:n.1676+166del
NM_000255.3:c.1676+166del NP_000246.2:n.1676+166del
XM_005249143.2:c.1676+166del XP_005249200.1:n.1676+166del
XM_005249143.3:c.1676+166del XP_005249200.1:n.1676+166del
NM_000255.4:c.1676+166del MANE Select NP_000246.2:n.1676+166del
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