Canonical Allele Identifier: CA235524
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100709
ClinVar RCV Id: RCV000162233
dbSNP Id: rs483352803
MyVariant Identifiers: chr6:g.49426776_49426777insA (hg19) chr6:g.49459063_49459064insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459063_49459064insA , CM000668.2:g.49459063_49459064insA GRCh38
NC_000006.11:g.49426776_49426777insA , CM000668.1:g.49426776_49426777insA GRCh37
NC_000006.10:g.49534735_49534736insA NCBI36
NG_007100.1:g.9076_9077insT

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+18_385+19insT MANE Select ENSP00000274813.3:n.385+18_385+19insT
ENST00000274813.3:c.385+18_385+19insT ENSP00000274813.3:n.385+18_385+19insT
NM_000255.3:c.385+18_385+19insT NP_000246.2:n.385+18_385+19insT
XM_005249143.2:c.385+18_385+19insT XP_005249200.1:n.385+18_385+19insT
XM_005249143.3:c.385+18_385+19insT XP_005249200.1:n.385+18_385+19insT
NM_000255.4:c.385+18_385+19insT MANE Select NP_000246.2:n.385+18_385+19insT
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